{ "uniprot_canonical_ac": "A2A3K4-1", "ptm_annotation": [], "sequence": { "header": "sp|A2A3K4-1|PTPC1_HUMAN Isoform 1 of Protein tyrosine phosphatase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PTPDC1 PE=1 SV=1 CANONICAL=A2A3K4-1", "length": 754, "sequence": "MAAGVLPQNEQPYSTLVNNSECVANMKGNLERPTPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIDQFLSHGIKTIINLQRPGEHASCGNPLEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTTILDMVKVMTFALQEGKVAIHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLTPLRNIFSCCDPKAHAVTLPQYLIRQRHLLHGYEARLLKHVPKIIHLVCKLLLDLAENRPVMMKDVSEGPGLSAEIEKTMSEMVTMQLDKELLRHDSDVSNPPNPTAVAADFDNRGMIFSNEQQFDPLWKRRNVECLQPLTHLKRRLSYSDSDLKRAENLLEQGETPQTVPAQILVGHKPRQQKLISHCYIPQSPEPDLHKEALVRSTLSFWSQSKFGGLEGLKDNGSPIFHGRIIPKEAQQSGAFSADVSGSHSPGEPVSPSFANVHKDPNPAHQQVSHCQCKTHGVGSPGSVRQNSRTPRSPLDCGSSPKAQFLVEHETQDSKDLSEAASHSALQSELSAEARRILAAKALANLNESVEKEELKRKVEMWQKELNSRDGAWERICGERDPFILCSLMWSWVEQLKEPVITKEDVDMLVDRRADAAEALFLLEKGQHQTILCVLHCIVNLQTIPVDVEEAFLAHAIKAFTKVNFDSENGPTVYNTLKKIFKHTLEEKRKMTKDGPKPGL" }, "uniprot_id": "PTPC1_HUMAN", "enzyme_annotation": [ { "ec": "3.1.3.-", "activity": "" } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A3K4", "id": "A2A3K4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24121790", "type": [ "PubMed" ], "id": "24121790" } ], "title": "A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240758.1", "id": "NP_001240758.1", "database": "RefSeq" } ], "authors": "Levine DM, Ek WE, Zhang R, Liu X, Onstad L, Sather C, Lao-Sirieix P, Gammon MD, Corley DA, Shaheen NJ, Bird NC, Hardie LJ, Murray LJ, Reid BJ, Chow WH, Risch HA, Nyren O, Ye W, Liu G, Romero Y, Bernstein L, Wu AH, Casson AG, Chanock SJ, Harrington P, Caldas I, Debiram-Beecham I, Caldas C, Hayward NK, Pharoah PD, Fitzgerald RC, Macgregor S, Whiteman DC, Vaughan TL", "date": "2013" } ], "uniprot_ac": "A2A3K4", "site_annotation": [ { "end_pos": 20, "annotation": "n_glycosylation_sequon", "start_pos": 18 }, { "end_pos": 472, "annotation": "n_glycosylation_sequon", "start_pos": 470 }, { "end_pos": 603, "annotation": "n_glycosylation_sequon", "start_pos": 601 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2A3K4#A0A087WTF0-1", "isoform_ac": "A0A087WTF0-1", "locus": { "end_pos": 94084531, "strand": "-", "start_pos": 94107941, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000620992", "id": "ENST00000620992", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000477817", "id": "ENSP00000477817", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A087WTF0-1|PTPC1_HUMAN Computationally mapped isoform of Protein tyrosine phosphatase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PTPDC1 PE=1 SV=1 CANONICAL=A2A3K4-1", "length": 808, "sequence": "MQVQDATRRPSAVRFLSSFLQGRRHSTSDPVLRLQQARRGSGLGSGSATKLLSSSSLQVMVAVSSVSHAEGNPTFPERKSKGNLERPTPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIDQFLSHGIKTIINLQRPGEHASCGNPLEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTTILDMVKVMTFALQEGKVAIHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLTPLRNIFSCCDPKAHAVTLPQYLIRQRHLLHGYEARLLKHVPKIIHLVCKLLLDLAENRPVMMKDVSEGPGLSAEIEKTMSEMVTMQLDKELLRHDSDVSNPPNPTAVAADFDNRGMIFSNEQQFDPLWKRRNVECLQPLTHLKRRLSYSDSDLKRAENLLEQGETPQTVPAQILVGHKPRQQKLISHCYIPQSPEPDLHKEALVRSTLSFWSQSKFGGLEGLKDNGSPIFHGRIIPKEAQQSGAFSADVSGSHSPGEPVSPSFANVHKDPNPAHQQVSHCQCKTHGVGSPGSVRQNSRTPRSPLDCGSSPKAQFLVEHETQDSKDLSEAASHSALQSELSAEARRILAAKALANLNESVEKEELKRKVEMWQKELNSRDGAWERICGERDPFILCSLMWSWVEQLKEPVITKEDVDMLVDRRADAAEALFLLEKGQHQTILCVLHCIVNLQTIPVDVEEAFLAHAIKAFTKVNFDSENGPTVYNTLKKIFKHTLEEKRKMTKDGPKPGL" } }, { "url": "https://www.uniprot.org/uniprot/A2A3K4#A2A3K4-1", "isoform_ac": "A2A3K4-1", "locus": { "end_pos": 94064740, "strand": "-", "start_pos": 94107941, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000375360", "id": "ENST00000375360", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000364509", "id": "ENSP00000364509", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A3K4-1|PTPC1_HUMAN Isoform 1 of Protein tyrosine phosphatase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PTPDC1 PE=1 SV=1 CANONICAL=A2A3K4-1", "length": 754, "sequence": "MAAGVLPQNEQPYSTLVNNSECVANMKGNLERPTPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIDQFLSHGIKTIINLQRPGEHASCGNPLEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTTILDMVKVMTFALQEGKVAIHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLTPLRNIFSCCDPKAHAVTLPQYLIRQRHLLHGYEARLLKHVPKIIHLVCKLLLDLAENRPVMMKDVSEGPGLSAEIEKTMSEMVTMQLDKELLRHDSDVSNPPNPTAVAADFDNRGMIFSNEQQFDPLWKRRNVECLQPLTHLKRRLSYSDSDLKRAENLLEQGETPQTVPAQILVGHKPRQQKLISHCYIPQSPEPDLHKEALVRSTLSFWSQSKFGGLEGLKDNGSPIFHGRIIPKEAQQSGAFSADVSGSHSPGEPVSPSFANVHKDPNPAHQQVSHCQCKTHGVGSPGSVRQNSRTPRSPLDCGSSPKAQFLVEHETQDSKDLSEAASHSALQSELSAEARRILAAKALANLNESVEKEELKRKVEMWQKELNSRDGAWERICGERDPFILCSLMWSWVEQLKEPVITKEDVDMLVDRRADAAEALFLLEKGQHQTILCVLHCIVNLQTIPVDVEEAFLAHAIKAFTKVNFDSENGPTVYNTLKKIFKHTLEEKRKMTKDGPKPGL" } }, { "url": "https://www.uniprot.org/uniprot/A2A3K4#A2A3K4-2", "isoform_ac": "A2A3K4-2", "locus": { "end_pos": 94084531, "strand": "-", "start_pos": 94107941, "chromosome": "9", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000288976", "id": "ENST00000288976", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000288976", "id": "ENSP00000288976", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2A3K4-2|PTPC1_HUMAN Isoform 2 of Protein tyrosine phosphatase domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PTPDC1 PE=1 SV=1 CANONICAL=A2A3K4-1", "length": 806, "sequence": "MQVQDATRRPSAVRFLSSFLQGRRHSTSDPVLRLQQARRGSGLGSGSATKLLSSSSLQVMVAVSSVSHAEGNPTFPERKRNLERPTPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIDQFLSHGIKTIINLQRPGEHASCGNPLEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTTILDMVKVMTFALQEGKVAIHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLTPLRNIFSCCDPKAHAVTLPQYLIRQRHLLHGYEARLLKHVPKIIHLVCKLLLDLAENRPVMMKDVSEGPGLSAEIEKTMSEMVTMQLDKELLRHDSDVSNPPNPTAVAADFDNRGMIFSNEQQFDPLWKRRNVECLQPLTHLKRRLSYSDSDLKRAENLLEQGETPQTVPAQILVGHKPRQQKLISHCYIPQSPEPDLHKEALVRSTLSFWSQSKFGGLEGLKDNGSPIFHGRIIPKEAQQSGAFSADVSGSHSPGEPVSPSFANVHKDPNPAHQQVSHCQCKTHGVGSPGSVRQNSRTPRSPLDCGSSPKAQFLVEHETQDSKDLSEAASHSALQSELSAEARRILAAKALANLNESVEKEELKRKVEMWQKELNSRDGAWERICGERDPFILCSLMWSWVEQLKEPVITKEDVDMLVDRRADAAEALFLLEKGQHQTILCVLHCIVNLQTIPVDVEEAFLAHAIKAFTKVNFDSENGPTVYNTLKKIFKHTLEEKRKMTKDGPKPGL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:138639", "resource": "KEGG Pathway", "id": "hsa:138639", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2A3K4#function", "annotation": "May play roles in cilia formation and/or maintenance.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2A3K4#function", "id": "A2A3K4", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2KB18-1", "protein_name": "Protein tyrosine phosphatase domain-containing 1", "sequence": { "length": 796, "sequence": "MYLALLEILESGSILFKGASIAHTSDGAEKGEKQGAKPDRSLETRMAAGVLPQNENPYSTLVNDSGHAAYMDENSGRPTPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIEQFLSHGIKTIINLQRPGEHASCGNSLEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTAILDMVKVMTFALQEGKVAVHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLAPLRNIFSCCDPKAHAVTLAQYLMRQRHLLHGYEARLLKYVPKIVHLVCKLLLDVAENRPVVMKSVLEGPELSAEIEKTVSEMVTMQLDQELLRQNSDVPDPFNPTAEVAEFDSQDVILSNEHEFDPLWKRRNIERLQPLTHLKRQLSYSDSDLKRAKAILEQGETPWTVPAQELLDHSLQQQTPTSHCFLPPTPELGLHKDTLVRNTFSFWTESKCGGLEEPKDEGSLLLCRKDSPKEVQRSRTFSVGVSCSHNPGEPAPPNFTRTHKDSERGAHCRCEAPEGWVPGPVPKMGRSPCSPLHCDTSPKAQFSCGQETQDSTYLPEATPHAGLQSELNAEARRILAAKALANLTEFVEEEEVKRRVEMWQKELNSREGAWERICGERDPFILCSLMWSWVEQLKEPVISKEDVDMLVDRHADAAEALFLLEKGQYQTILCVLHCIVSLQTLPVEVEEACLSHAIKAFTKVNFDSENGPIVYDTLKKIFKHTLEEKRKMAKDSPRPGLS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/17576", "id": "17576", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6NZK8-1", "protein_name": "Protein tyrosine phosphatase domain-containing protein 1", "sequence": { "length": 747, "sequence": "MAAGVLPQNEDPYSTLVNSSGHAAHMDENSGRPAPKYTKVGERLRHVIPGHMACSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYRIIEQFLGQGIKTIINLQRPGEHASCGSALEQESGFTYLPEAFMEAGIYFYNFGWKDYGVASLTAILDMVKVMTFALQEGKVAVHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLAPLRNIFSCCDPKAHAVTLAQYLIRQRHLLHGYEARLLKYVPKIIHLVCKLLLDLAENRPVVMKSMLEGPVLSAEIEKTVSEMVTLQLDQELLRQNSDVPDPFNPTAEVAEFENQDVILSTEQEFDPLWKRRDIECLQPLTHLKRQLSYSDSDLKRAKAILEQGETPWTVPAQELLDHSLQHQKPTSHCYMPPTPELGFNKEALVQNTFSFWTPSKCGGLEGLKDEGSLLLCRKDIPKEVQRSRTFSVGVSCSHNPGEPVPPNFTSIHKDPEQVTHCRCEAPGGWVPGPVHEMVRSPCSPLNCGSSPKAQFPHGQETQDSTDLSEAVPHAGLQPELSAEARRILAAKALANLNEFVEKEEVKRKVEMWQKELNSREEAWERICGERDPFILCSLMWSWVEQLKEPVITKEDVDMLVDRQADAAEALFLLEKGQYQTILCVLHCIVSLQTLPMEVEEACLLHAIKAFTKVNFDSENGPIVYDTLKKIFKHTLEEKRKMAKDSLS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/17576", "id": "17576", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Y", "start_pos": 153, "alt_nt": "T", "chr_id": "9", "ref_nt": "A", "chr_pos": "96857602", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "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": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "renal cancer", "description": "" } ], "recommended_name": { "id": "DOID:263", "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." } }, { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A3K4", "id": "A2A3K4", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-sequon-loss" ], "frequency": "2.7", "sequence_mut": "F", "subjects_tested": "150", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.7%); num. of cancers (4).", "end_pos": 153, "minor_allelic_frequency": "", "subjects_positive": "4" }, { "sequence_org": "A", "start_pos": 208, "alt_nt": "T", "chr_id": "9", "ref_nt": "C", "chr_pos": "96859633", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A3K4", "id": "A2A3K4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 208, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 214, "alt_nt": "A", "chr_id": "9", "ref_nt": "G", "chr_pos": "96859650", "disease": [ { "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." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A3K4", "id": "A2A3K4", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "N", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). 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"crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000158079", "id": "ENSG00000158079", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2A3K4", "id": "A2A3K4", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PTPDC1", "id": "PTPDC1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/138639", "id": "138639", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30184", "id": "30184", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2A3K4*", "id": "A2A3K4", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000340", "id": "IPR000340", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000387", "id": "IPR000387", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003595", "id": "IPR003595", "database": "InterPro" }, { "url": 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