{ "uniprot_canonical_ac": "A2RTX5-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RTX5-1|SYTC2_HUMAN Isoform 1 of Threonine--tRNA ligase 2, cytoplasmic OS=Homo sapiens OX=9606 GN=TARS3 PE=1 SV=1 CANONICAL=A2RTX5-1", "length": 802, "sequence": "MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERSRQATLESAELEAAQEAGAQPPPSQSQDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSNIITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDRPLEGDSSLELLTFDNEEAQAVYWHSSAHILGEAMELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFKCRILNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQFLQSVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATIQLDFQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEFFEEGFMADVDLDHSCTLNKKIRNAQLAQYNFILVVGEKEKIDNAVNVRTRDNKIHGEILVTSAIDKLKNLRKTRTLNAEEAF" }, "uniprot_id": "", "enzyme_annotation": [ { "ec": "6.1.1.3", "activity": "" }, { "ec": "6.1.1.3", "activity": "ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + L-threonyl-tRNA(Thr)." } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "reported_with_glycan.oglcnac_db" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004812", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "aminoacyl-tRNA ligase activity", "id": "GO:0004812" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "threonine-tRNA ligase activity", "id": "GO:0004829" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006418", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "tRNA aminoacylation for protein translation", "id": "GO:0006418" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006435", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" } ], "name": "threonyl-tRNA aminoacylation", "id": "GO:0006435" } ], "total": 2, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24312579", "type": "PubMed", "id": "24312579" } ], "title": "Reinvestigation of aminoacyl-tRNA synthetase core complex by affinity purification-mass spectrometry reveals TARSL2 as a potential member of the complex.", "journal": "PLoS ONE", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5", "id": "A2RTX5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "id": "NP_689547.2", "database": "RefSeq" } ], "authors": "Kim K., Lee C., Kim Y.K., Choi H., Park S.J., Kim J.S., Na S., Paek E.", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28411811", "type": "PubMed", "id": "28411811" } ], "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", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29579307", "type": "PubMed", "id": "29579307" } ], "title": "A threonyl-tRNA synthetase-like protein has tRNA aminoacylation and editing activities.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "id": "NP_689547.2", "database": "RefSeq" } ], "authors": "Chen Y, Ruan ZR, Wang Y, Huang Q, Xue MQ, Zhou XL, Wang ED", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31287872", "type": "PubMed", "id": "31287872" } ], "title": "Newly acquired N-terminal extension targets threonyl-tRNA synthetase-like protein into the multiple tRNA synthetase complex.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "id": "NP_689547.2", "database": "RefSeq" } ], "authors": "Zhou XL, Chen Y, Zeng QY, Ruan ZR, Fang P, Wang ED", "date": "2019" } ], "uniprot_ac": "A2RTX5", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RTX5", "type": "synonym", "resource": "RefSeq", "name": "TARS3" }, { "url": "https://www.uniprot.org/uniprot/A2RTX5", "type": "recommended", "resource": "UniProtKB", "name": "TARS3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RTX5", "type": "synonym", "resource": "RefSeq", "name": "TARSL2; ThrRS-L" }, { "url": "https://www.uniprot.org/uniprot/A2RTX5", "type": "synonym", "resource": "UniProtKB", "name": "TARSL2" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5#A2RTX5-1", "isoform_ac": "A2RTX5-1", "locus": { "end_pos": 101654585, "strand": "+", "start_pos": 101724387, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000335968", "id": "ENST00000335968", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000338093", "id": "ENSP00000338093", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RTX5-1|SYTC2_HUMAN Isoform 1 of Threonine--tRNA ligase 2, cytoplasmic OS=Homo sapiens OX=9606 GN=TARS3 PE=1 SV=1 CANONICAL=A2RTX5-1", "length": 802, "sequence": "MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERSRQATLESAELEAAQEAGAQPPPSQSQDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSNIITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDRPLEGDSSLELLTFDNEEAQAVYWHSSAHILGEAMELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFKCRILNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQFLQSVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATIQLDFQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEFFEEGFMADVDLDHSCTLNKKIRNAQLAQYNFILVVGEKEKIDNAVNVRTRDNKIHGEILVTSAIDKLKNLRKTRTLNAEEAF" } }, { "url": "https://www.uniprot.org/uniprot/A2RTX5#A2RTX5-2", "isoform_ac": "A2RTX5-2", "locus": {}, "sequence": { "header": "sp|A2RTX5-2|SYTC2_HUMAN Isoform 2 of Threonine--tRNA ligase 2, cytoplasmic OS=Homo sapiens OX=9606 GN=TARS3 PE=1 SV=1 CANONICAL=A2RTX5-1", "length": 707, "sequence": "MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERSRQATLESAELEAAQEAGAQPPPSQSQDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSNIITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDRPLEGDSSLELLTFDNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQFLQSVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATIQLDFQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEFFEEGFMADVDLDHSCTLNKKIRNAQLAQYNFILVVGEKEKIDNAVNVRTRDNKIHGEILVTSAIDKLKNLRKTRTLNAEEAF" } }, { "url": "https://www.uniprot.org/uniprot/A2RTX5#B7ZLP8-1", "isoform_ac": "B7ZLP8-1", "locus": { "end_pos": 101655983, "strand": "+", "start_pos": 101724387, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000615656", "id": "ENST00000615656", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000478827", "id": "ENSP00000478827", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7ZLP8-1|SYTC2_HUMAN Computationally mapped isoform of Threonine--tRNA ligase 2, cytoplasmic OS=Homo sapiens OX=9606 GN=TARS3 PE=1 SV=1 CANONICAL=A2RTX5-1", "length": 766, "sequence": "MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERSRQATLESAELEAAQEAGAQPPPSQSQDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSNIITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDRPLEGDSSLELLTFDNEEAQAVYWHSSAHILGEAMELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFKCRILNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQFLQSVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATIQLDFQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEFFEEGFMADVDLDHSCTLNKKIRNAQLAQYNFILDRFLPSVWQEAWL" } }, { "url": "https://www.uniprot.org/uniprot/A2RTX5#H0YKB9-1", "isoform_ac": "H0YKB9-1", "locus": { "end_pos": 101699418, "strand": "+", "start_pos": 101708828, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000558533", "id": "ENST00000558533", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000452740", "id": "ENSP00000452740", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YKB9-1|SYTC2_HUMAN Computationally mapped isoform of Threonine--tRNA ligase 2, cytoplasmic OS=Homo sapiens OX=9606 GN=TARS3 PE=1 SV=2 CANONICAL=A2RTX5-1", "length": 148, "sequence": "EVSKEILLEMFKYNKFKCRILNEKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIRMQDRCG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123283", "resource": "KEGG Pathway", "id": "hsa:123283", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5#function", "annotation": "Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RTX5#function", "id": "A2RTX5", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "annotation": "Newly acquired N-terminal extension targets threonyl-tRNA synthetase-like protein into the multiple tRNA synthetase complex.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "id": "NP_689547.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "annotation": "TARSL2 is potentially a new component of aminoacyl-tRNA synthetase core-complex Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547.2", "id": "NP_689547.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5XI17-1", "protein_name": "Threonyl-tRNA synthetase", "sequence": { "length": 553, "sequence": "MAAQALAAQAVASRLQRQEEDIRWLCAEVQRLRDEQLRGPERGQAEGPRLTREVAQLQAENRDLHQRLCDLRLRLAEQGGPGARRAAAHEPPTQNQEKDTKRKRLKDSEPNREVKQPNFIKERLQLFETLKTDHQLLPATQEKKNTNNVISVRVAGGKTVQGEEWKTTPYQVAAGISKELAENTVIAKVNGVLWDLDRPLEGDSTVELLMFDNEEAQAVYWHSSAHVLGEAMELYYGGHLCYGPPIENGFYYDMFIGDRVVSSTELSALENICKTIIKEKQPFERLEVSKDSLLEMFKYNKFKCRILKEKVDTPTTTVYRCGPLIDLCKGPHVRHTGKIKAIKIFKNSSTYWEGNPEMETLQRVYGISFPDSKMMRDWEKFQEEARSRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLMDFIREEYHKRNFTEVLSPNMYNSKLWETSGHWQHYSNNMFTFDIEKDTFALKPMNCPGHCLMFAHRPRSWREMPVRFADFGVLHRNELSGTLTGLTRVRRFQQDDAHIFCMVEQLKLPCRGDCQTLQTV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/65036", "id": "65036", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tarsl2", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BLY2-1", "protein_name": "Threonine--tRNA ligase 2, cytoplasmic", "sequence": { "length": 790, "sequence": "MAAQALAAQAVASRLQRQEEDIRWLCAEVQRLRDEQLRGPERGQAEGPRLTREVAQLQAENRDLHQRLCGLRLRLAEQRRTEAGRAAAHEPPTQNQEKDTKKKRLKQSEPGREVKQPNFIKERLQLFETLKTDHQLLPATQEKKNTNNVISVRVAGGKTVQGERWKTTPYQVAAGISKELAEHTVIAKVNGVLWDLDRPLEGDSTVELLMFDNEEAQAVYWHSSAHILGEAMELYYGGHLCYGPPIENGFYYDMFIEDRVVSSTELSALENICKTIIKEKQPFERLEVSKDTLLEMFKYNKFKCRILKEKVDTPTTTVYRCGPLIDLCKGPHVRHTGKIKAIKIFKNSSTYWEGNPEMETLQRIYGISFPDSKMMKDWEKFQEEAKSRDHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNALMDFIREEYHKRNFTEVLSPNMYNSKLWETSGHWQHYSNNMFTFDVEKDTFALKPMNCPGHCLMFAHRPRSWREMPVRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCMVEQIEEEIKGCLHFLQSVYSTFGFSFQLNLSTRPEHFLGEIEIWDEAERQLQNSLVEFGKPWKINPGDGAFYGPKIDIKIKDAIGRYHQCATIQLDFQLPIRFNLTYVSKDGDDKNRPVIIHRAILGSVERMIAILSENYGGKWPLWLSPRQVMVIPVGPACENYALQVSKECFEEGFMADVDLDDSCTLNKKIRNAQLAQYNFILVVGEKEKINNAVNVRTRDNKIHGEISIASVIEKLKNLKKSRTLNAEEDF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/65036", "id": "65036", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RTX5/", "id": "A2RTX5", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tars3", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 18, "alt_nt": "C", "chr_id": "15", "ref_nt": "T", "chr_pos": "102264538", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RTX5", "id": "A2RTX5", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 18, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 35, "alt_nt": "T", "chr_id": "15", "ref_nt": "C", "chr_pos": "102264488", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RTX5", "id": "A2RTX5", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 35, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 39, "alt_nt": "A", "chr_id": "15", "ref_nt": "C", "chr_pos": "102264476", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. 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