{ "uniprot_canonical_ac": "A1KZ92-1", "ptm_annotation": [ { "annotation": "Phosphorylation by SRC on tyrosine residues is required for targeting to polysomes.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92", "id": "A1KZ92", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22543864", "id": "22543864", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A1KZ92-1|PXDNL_HUMAN Isoform 1 of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=3 CANONICAL=A1KZ92-1", "length": 1463, "sequence": "MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFNRIREIPGSAFKKLKNLNTLLLNNNHIRKISRNAFEGLENLLYLYLYKNEIHALDKQTFKGLISLEHLYIHFNQLEMLQPETFGDLLRLERLFLHNNKLSKIPAGSFSNLDSLKRLRLDSNALVCDCDLMWLGELLQGFAQHGHTQAAATCEYPRRLHGRAVASVTVEEFNCQSPRITFEPQDVEVPSGNTVYFTCRAEGNPKPEIIWIHNNHSLDLEDDTRLNVFDDGTLMIRNTRESDQGVYQCMARNSAGEAKTQSAMLRYSSLPAKPSFVIQPQDTEVLIGTSTTLECMATGHPHPLITWTRDNGLELDGSRHVATSSGLYLQNITQRDHGRFTCHANNSHGTVQAAANIIVQAPPQFTVTPKDQVVLEEHAVEWLCEADGNPPPVIVWTKTGGQLPVEGQHTVLSSGTLRIDRAAQHDQGQYECQAVSSLGVKKVSVQLTVKPKALAVFTQLPQDTSVEVGKNINISCHAQGEPQPIITWNKEGVQITESGKFHVDDEGTLTIYDAGFPDQGRYECVARNSFGLAVTNMFLTVTAIQGRQAGDDFVESSILDAVQRVDSAINSTRRHLFSQKPHTSSDLLAQFHYPRDPLIVEMARAGEIFEHTLQLIRERVKQGLTVDLEGKEFRYNDLVSPRSLSLIANLSGCTARRPLPNCSNRCFHAKYRAHDGTCNNLQQPTWGAALTAFARLLQPAYRDGIRAPRGLGLPVGSRQPLPPPRLVATVWARAAAVTPDHSYTRMLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDPPCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPALMVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADCRSRGQFRAVTQESQKKRSAQYSYPVDKDMELSHLRSRQQDKIYVGEDARNVTVLAKTKFSQDFSTFAAEIQETITALREQINKLEARLRQAGCTDVRGVPRKAEERWMKEDCTHCICESGQVTCVVEICPPAPCPSPELVKGTCCPVCRDRGMPSDSPEKR" }, "uniprot_id": "PXDNL_HUMAN", "enzyme_annotation": [ { "ec": "1.11.1.7", "activity": "" }, { "ec": "1.11.1.7", "activity": "2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O." } ], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92", "id": "A1KZ92", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12923263", "type": [ "PubMed" ], "id": "12923263" } ], "title": "An endonuclease activity similar to Xenopus PMR1 catalyzes the degradation of normal and nonsense-containing human beta-globin mRNA in erythroid cells.", "journal": "RNA", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92", "id": "A1KZ92", "database": "UniProtKB" } ], "authors": "Schoenberg D.R., Bremer K.A., Stevens A.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18929642", "type": [ "PubMed" ], "id": "18929642" } ], "title": "Identification and characterization of VPO1, a new animal heme-containing peroxidase.", "journal": "Free Radic. Biol. Med.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92", "id": "A1KZ92", "database": "UniProtKB" } ], "authors": "Cao Z., Cheng G., Lambeth J.D., Pagano P.J., Salerno J.C.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22543864", "type": [ "PubMed" ], "id": "22543864" } ], "title": "Identification of the human PMR1 mRNA endonuclease as an alternatively processed product of the gene for peroxidasin-like protein.", "journal": "RNA", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92", "id": "A1KZ92", "database": "UniProtKB" } ], "authors": "Han J., Schoenberg D.R., Patil D.P., Otsuka Y., Bakthavachalu B., Gu S.Q., Guda C.", "date": "2012" } ], "uniprot_ac": "A1KZ92", "site_annotation": [ { "end_pos": 1070, "annotation": "n_glycosylation_sequon", "start_pos": 1068 }, { "end_pos": 1163, "annotation": "n_glycosylation_sequon", "start_pos": 1161 }, { "end_pos": 1285, "annotation": "n_glycosylation_sequon", "start_pos": 1283 }, { "end_pos": 1354, "annotation": "n_glycosylation_sequon", "start_pos": 1352 }, { "end_pos": 273, "annotation": "n_glycosylation_sequon", "start_pos": 271 }, { "end_pos": 389, "annotation": "n_glycosylation_sequon", "start_pos": 387 }, { "end_pos": 403, "annotation": "n_glycosylation_sequon", "start_pos": 401 }, { "end_pos": 531, "annotation": "n_glycosylation_sequon", "start_pos": 529 }, { "end_pos": 628, "annotation": "n_glycosylation_sequon", "start_pos": 626 }, { "end_pos": 707, "annotation": "n_glycosylation_sequon", "start_pos": 705 }, { "end_pos": 719, "annotation": "n_glycosylation_sequon", "start_pos": 717 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92#A1KZ92-1", "isoform_ac": "A1KZ92-1", "locus": { "end_pos": 51319894, "strand": "+", "start_pos": 51809344, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356297", "id": "ENST00000356297", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000348645", "id": "ENSP00000348645", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1KZ92-1|PXDNL_HUMAN Isoform 1 of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=3 CANONICAL=A1KZ92-1", "length": 1463, "sequence": "MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFNRIREIPGSAFKKLKNLNTLLLNNNHIRKISRNAFEGLENLLYLYLYKNEIHALDKQTFKGLISLEHLYIHFNQLEMLQPETFGDLLRLERLFLHNNKLSKIPAGSFSNLDSLKRLRLDSNALVCDCDLMWLGELLQGFAQHGHTQAAATCEYPRRLHGRAVASVTVEEFNCQSPRITFEPQDVEVPSGNTVYFTCRAEGNPKPEIIWIHNNHSLDLEDDTRLNVFDDGTLMIRNTRESDQGVYQCMARNSAGEAKTQSAMLRYSSLPAKPSFVIQPQDTEVLIGTSTTLECMATGHPHPLITWTRDNGLELDGSRHVATSSGLYLQNITQRDHGRFTCHANNSHGTVQAAANIIVQAPPQFTVTPKDQVVLEEHAVEWLCEADGNPPPVIVWTKTGGQLPVEGQHTVLSSGTLRIDRAAQHDQGQYECQAVSSLGVKKVSVQLTVKPKALAVFTQLPQDTSVEVGKNINISCHAQGEPQPIITWNKEGVQITESGKFHVDDEGTLTIYDAGFPDQGRYECVARNSFGLAVTNMFLTVTAIQGRQAGDDFVESSILDAVQRVDSAINSTRRHLFSQKPHTSSDLLAQFHYPRDPLIVEMARAGEIFEHTLQLIRERVKQGLTVDLEGKEFRYNDLVSPRSLSLIANLSGCTARRPLPNCSNRCFHAKYRAHDGTCNNLQQPTWGAALTAFARLLQPAYRDGIRAPRGLGLPVGSRQPLPPPRLVATVWARAAAVTPDHSYTRMLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDPPCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPALMVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADCRSRGQFRAVTQESQKKRSAQYSYPVDKDMELSHLRSRQQDKIYVGEDARNVTVLAKTKFSQDFSTFAAEIQETITALREQINKLEARLRQAGCTDVRGVPRKAEERWMKEDCTHCICESGQVTCVVEICPPAPCPSPELVKGTCCPVCRDRGMPSDSPEKR" } }, { "url": "https://www.uniprot.org/uniprot/A1KZ92#A1KZ92-2", "isoform_ac": "A1KZ92-2", "locus": {}, "sequence": { "header": "sp|A1KZ92-2|PXDNL_HUMAN Isoform 2 of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=3 CANONICAL=A1KZ92-1", "length": 1316, "sequence": "MEPRLFCWTTLFLLAGWCLPGLPCPSRCLCFKSTVRCMHLMLDHIPQVPQQTTVLDLRFNRIREIPGSAFKKLKNLNTLLLNNNHIRKISRNAFEGLENLLYLYLYKNEIHALDKQTFKGLISLEHLYIHFNQLEMLQPETFGDLLRLERLFLHNNKLSKIPAGSFSNLDSLKRLRLDSNALVCDCDLMWLGELLQGFAQHGHTQAAATCEYPRRLHGRAVASVTVEEFNCQSPRITFEPQDVEVPSGNTVYFTCRAEGNPKPEIIWIHNNHSLDLEDDTRLNVFDDGTLMIRNTRESDQGVYQCMARNSAGEAKTQSAMLRYSSLPAKPSFVIQPQDTEVLIGTSTTLECMATGHPHPLITWTRDNGLELDGSRHVATSSGLYLQNITQRDHGRFTCHANNSHGTVQAAANIIVQAPPQFTVTPKDQVVLEEHAVEWLCEADGNPPPVIVWTKTGGQLPVEGQHTVLSSGTLRIDRAAQHDQGQYECQAVSSLGVKKVSVQLTVKPKALAVFTQLPQDTSVEVGKNINISCHAQGEPQPIITWNKEGVQITESGKFHVDDEGTLTIYDAGFPDQGRYECVARNSFGLAVTNMFLTVTAIQGRQAGDDFVESSILDAVQRVDSAINSTRRHLFSQKPHTSSDLLAQFHYPRDPLIVEMARAGEIFEHTLQLIRERVKQGLTVDLEGKEFRYNDLVSPRSLSLIANLSGCTARRPLPNCSNRCFHAKYRAHDGTCNNLQQPTWGAALTAFARLLQPAYRDGIRAPRGLGLPVGSRQPLPPPRLVATVWARAAAVTPDHSYTRMLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDPPCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPALMVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADKQAGGTPEAGRVYRC" } }, { "url": "https://www.uniprot.org/uniprot/A1KZ92#A1KZ92-3", "isoform_ac": "A1KZ92-3", "locus": {}, "sequence": { "header": "sp|A1KZ92-3|PXDNL_HUMAN Isoform 3 of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=3 CANONICAL=A1KZ92-1", "length": 515, "sequence": "MLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDPPCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPALMVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADKQAGGTPEAGRVYRC" } }, { "url": "https://www.uniprot.org/uniprot/A1KZ92#H0YAV0-1", "isoform_ac": "H0YAV0-1", "locus": { "end_pos": 51319893, "strand": "+", "start_pos": 51408979, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000522933", "id": "ENST00000522933", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428114", "id": "ENSP00000428114", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YAV0-1|PXDNL_HUMAN Computationally mapped isoform of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=1 CANONICAL=A1KZ92-1", "length": 537, "sequence": "XAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADCRSRGQFRAVTQESQKKRSAQYSYPVDKDMELSHLRSRQQDKIYVGEDARNVTVLAKTKFSQDFSTFAAEIQETITALREQINKLEARLRQAGCTDVRGVPRKAEERWMKEDCTHCICESGQVTCVVEICPPAPCPSPELVKGTCCPVCRDRGMPSDSPEKR" } }, { "url": "https://www.uniprot.org/uniprot/A1KZ92#K4DIA6-1", "isoform_ac": "K4DIA6-1", "locus": { "end_pos": 51320851, "strand": "+", "start_pos": 51409421, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000522628", "id": "ENST00000522628", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429855", "id": "ENSP00000429855", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K4DIA6-1|PXDNL_HUMAN Computationally mapped isoform of Peroxidasin-like protein OS=Homo sapiens OX=9606 GN=PXDNL PE=1 SV=1 CANONICAL=A1KZ92-1", "length": 582, "sequence": "NNLQQPTWGAALTAFARLLQPAYRDGIRAPRGLGLPVGSRQPLPPPRLVATVWARAAAVTPDHSYTRMLMHWGWFLEHDLDHTVPALSTARFSDGRPCSSVCTNDPPCFPMNTRHADPRGTHAPCMLFARSSPACASGRPSATVDSVYAREQINQQTAYIDGSNVYGSSERESQALRDPSVPRGLLKTGFPWPPSGKPLLPFSTGPPTECARQEQESPCFLAGDHRANEHLALAAMHTLWFREHNRMATELSALNPHWEGNTVYQEARKIVGAELQHITYSHWLPKVLGDPGTRMLRGYRGYNPNVNAGIINSFATAAFRFGHTLINPILYRLNATLGEISEGHLPFHKALFSPSRIIKEGGIDPVLRGLFGVAAKWRAPSYLLSPELTQRLFSAAYSAAVDSAATIIQRGRDHGIPPYVDFRVFCNLTSVKNFEDLQNEIKDSEIRQKLRKLYGSPGDIDLWPALMVEDLIPGTRVGPTLMCLFVTQFQRLRDGDRFWYENPGVFTPAQLTQLKQASLSRVLCDNGDSIQQVQADVFVKAEYPQDYLNCSEIPKVDLRVWQDCCADKQAGGTPEAGRVYRC" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:137902", "resource": "KEGG Pathway", "id": "hsa:137902", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92#function", "annotation": "Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1KZ92#function", "id": "A1KZ92", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 1006, "alt_nt": "A", "chr_id": "8", "ref_nt": "C", "chr_pos": "52321168", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1KZ92", "id": "A1KZ92", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "C", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 1006, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "alt_nt": "T", "chr_id": "8", "ref_nt": "C", "chr_pos": "51408497", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461888024", "id": "rs1461888024", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1461888024#frequency_tab", "id": "rs1461888024", "database": "TOPMed" } ], "sequence_mut": "S", "start_pos": 1043, "keywords": [ "ebi", "germline" ], "end_pos": 1043, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAG->NAS)." }, { "sequence_org": "N", "start_pos": 108, "alt_nt": "C", "chr_id": "8", "ref_nt": "A", "chr_pos": "52469456", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1KZ92", "id": "A1KZ92", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "K", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs1414504062.", "end_pos": 108, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 1137, "alt_nt": "A", "chr_id": "8", "ref_nt": "G", "chr_pos": "52320774", "disease": [ { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } }, { "synonyms": [ { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic tumor", "description": "" } ], "recommended_name": { "id": "DOID:1793", "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." } }, { "synonyms": [ { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca body - stomach", "description": "" }, { "id": "DOID:10534", "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "name": "Ca lesser curvature - stomach", 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