{ "uniprot_canonical_ac": "O15178-1", "uniprot_ac": "O15178", "uniprot_id": "TBXT_HUMAN", "mass": { "chemical_mass": 47443.0, "monoisotopic_mass": 47443.0 }, "refseq": { "ac": "NP_001257413", "name": "T-box transcription factor T isoform 2", "summary": "The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, "gene_names": [ { "name": "TBXT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15178", "id": "O15178" }, { "name": "SAVA; T; TFT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413", "id": "NP_001257413" }, { "name": "TBXT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413", "id": "NP_001257413" }, { "name": "T", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15178", "id": "O15178" } ], "protein_names": [ { "name": "T-box transcription factor T", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15178" }, { "name": "Brachyury protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15178" }, { "name": "Protein T", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15178" }, { "name": "T, brachyury homolog; brachyury protein; protein T; T brachyury transcription factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413", "id": "NP_001257413" }, { "name": "T-box transcription factor T isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413", "id": "NP_001257413" } ], "function": [ { "annotation": "Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay.", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, { "database": "PubMed", "id": "34837714", "url": "https://glygen.org/publication/PubMed/34837714" } ] }, { "annotation": "Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site.", "evidence": [ { "database": "UniProtKB", "id": "O15178", "url": "https://www.uniprot.org/uniprot/O15178#function" }, { "database": "UniProtKB", "id": "P20293", "url": "https://www.uniprot.org/uniprot/P20293#function" } ] }, { "annotation": "Machine learning based tissue analysis reveals Brachyury has a diagnosis value in breast cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, { "database": "PubMed", "id": "33734319", "url": "https://glygen.org/publication/PubMed/33734319" } ] }, { "annotation": "MiR-219-5p targets TBXT and inhibits breast cancer cell EMT and cell migration and invasion.", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, { "database": "PubMed", "id": "34339487", "url": "https://glygen.org/publication/PubMed/34339487" } ] }, { "annotation": "Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, { "database": "PubMed", "id": "34392582", "url": "https://glygen.org/publication/PubMed/34392582" } ] }, { "annotation": "Targeted brachyury degradation disrupts a highly specific autoregulatory program controlling chordoma cell identity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" }, { "database": "PubMed", "id": "33521702", "url": "https://glygen.org/publication/PubMed/33521702" } ] }, { "annotation": "The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018].", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" } ] } ], "disease": [ { "disease_id": "DOID:3302", "recommended_name": { "id": "DOID:3302", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3302", "name": "chordoma", "description": "A notochordal cancer that derives_from cellular remnants of the notochord." }, "synonyms": [ { "id": "DOID:3302", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3302", "name": "notochordoma", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "chordoma", "description": "Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton." }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "chordoma", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "chordoma (disease)", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "chordoma, malignant", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "notochordal sarcoma", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "notochordoma", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "CHDM", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "chordoma, susceptibility to", "description": "" }, { "id": "MONDO:0008978", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008978", "name": "susceptibility to chordoma", "description": "" }, { "id": "MIM:215400", "resource": "MIM", "url": "https://www.omim.org/entry/215400", "name": "Chordoma", "description": "Chordoma" } ], "evidence": [ { "id": "215400", "database": "MIM", "url": "https://www.omim.org/entry/215400" } ] }, { "disease_id": "MONDO:0014314", "recommended_name": { "id": "MONDO:0014314", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014314", "name": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome", "description": "" }, "synonyms": [ { "id": "MONDO:0014314", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014314", "name": "SAVA", "description": "" }, { "id": "MONDO:0014314", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014314", "name": "sacral agenesis with vertebral anomalies", "description": "" }, { "id": "MIM:615709", "resource": "MIM", "url": "https://www.omim.org/entry/615709", "name": "Sacral agenesis with vertebral anomalies", "description": "Sacral agenesis with vertebral anomalies" } ], "evidence": [ { "id": "615709", "database": "MIM", "url": "https://www.omim.org/entry/615709" } ] }, { "disease_id": "MONDO:0020705", "recommended_name": { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "neural tube defects, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "neural tube defects", "description": "" }, { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "spina bifida, susceptibility to", "description": "" }, { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "NTD", "description": "" }, { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "neural tube defects, SUSCEPTIBILITY to", "description": "" }, { "id": "MONDO:0020705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020705", "name": "spina bifida", "description": "" }, { "id": "MIM:182940", "resource": "MIM", "url": "https://www.omim.org/entry/182940", "name": "Neural tube defects", "description": "Neural tube defects" } ], "evidence": [ { "id": "182940", "database": "MIM", "url": "https://www.omim.org/entry/182940" } ] } ], "snv": [ { "evidence": [ { "id": "rs1024103231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1024103231" }, { "id": "rs1024103231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1024103231" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 302, "end_pos": 302, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TYS->NYS).", "chr_id": "6", "chr_pos": "166160966", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T302", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372221322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372221322" }, { "id": "rs372221322", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372221322" }, { "id": "rs372221322", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372221322" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "6", "chr_pos": "166160843", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S343", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474892153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474892153" }, { "id": "rs1474892153", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474892153" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 357, "end_pos": 357, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "6", "chr_pos": "166158554", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A357", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15178", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15178" } ], "glycoeffect": [], "start_pos": 381, "end_pos": 381, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "166158482", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A381", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"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": "adenocarcinoma of lung, susceptibility to", "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": "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:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "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:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "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: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:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "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": "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15178", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15178" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "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": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15178", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15178" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15178", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15178" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15178", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15178" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "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": 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"MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQWGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTPGSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQGRLIASWTPVSPPSM", "length": 435, "header": "sp|O15178-1|TBXT_HUMAN Isoform 1 of T-box transcription factor T OS=Homo sapiens OX=9606 GN=TBXT PE=1 SV=1 CANONICAL=O15178-1" }, "isoforms": [ { "isoform_ac": "H0YM91-1", "url": "", "sequence": { "sequence": "MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQ", "length": 243, "header": "tr|H0YM91-1|H0YM91_HUMAN Computationally mapped isoform of T-box transcription factor T OS=Homo sapiens OX=9606 GN=TBXT PE=1 SV=1 CANONICAL=O15178-1" }, "locus": { "chromosome": "6", "start_pos": 166167591, "end_pos": 166164606, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461348.2", "url": "https://www.ensembl.org/id/ENST00000461348.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000453512.1", "url": "https://www.ensembl.org/id/ENSP00000453512.1" } ] } }, { "isoform_ac": "J3KP65-1", "url": "", "sequence": { "sequence": "MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQSGGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTPGSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQGRLIASWTPVSPPSM", "length": 436, "header": "tr|J3KP65-1|J3KP65_HUMAN Computationally mapped isoform of T-box transcription factor T OS=Homo sapiens OX=9606 GN=TBXT PE=1 SV=9 CANONICAL=O15178-1" }, "locus": { "chromosome": "6", "start_pos": 166167591, "end_pos": 166158318, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366876.7", "url": "https://www.ensembl.org/id/ENST00000366876.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000355841.3", "url": "https://www.ensembl.org/id/ENSP00000355841.3" } ] } }, { "isoform_ac": "O15178-1", "url": "", "sequence": { "sequence": "MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQWGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTPGSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQGRLIASWTPVSPPSM", "length": 435, "header": "sp|O15178-1|TBXT_HUMAN Isoform 1 of T-box transcription factor T OS=Homo sapiens OX=9606 GN=TBXT PE=1 SV=1 CANONICAL=O15178-1" }, "locus": { "chromosome": "6", "start_pos": 166167591, "end_pos": 166158318, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296946.6", "url": "https://www.ensembl.org/id/ENST00000296946.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000296946.2", "url": "https://www.ensembl.org/id/ENSP00000296946.2" } ] } }, { "isoform_ac": "O15178-2", "url": "", "sequence": { "sequence": "MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQSYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTPGSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQGRLIASWTPVSPPSM", "length": 377, "header": "sp|O15178-2|TBXT_HUMAN Isoform 2 of T-box transcription factor T OS=Homo sapiens OX=9606 GN=TBXT PE=1 SV=1 CANONICAL=O15178-1" }, "locus": { "chromosome": "6", "start_pos": 166167591, "end_pos": 166158318, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366871.7", "url": "https://www.ensembl.org/id/ENST00000366871.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000355836.3", "url": "https://www.ensembl.org/id/ENSP00000355836.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2, "start_aa": "Ser", "end_pos": 2, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2", "evidence": [ { "id": "O15178", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15178" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "O15178", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15178" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 3, "start_aa": "Ser", "end_pos": 3, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser3", "evidence": [ { "id": "O15178", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15178" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "O15178", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15178" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 6, "start_aa": "Thr", "end_pos": 6, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr6", "evidence": [ { "id": "O15178", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15178" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "O15178", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15178" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 8, "start_aa": "Ser", "end_pos": 8, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser8", "evidence": [ { "id": "O15178", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15178" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "31637018", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31637018" }, { "id": "O15178", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O15178" } ] } ], "phosphorylation": [ { "start_pos": 431, "end_pos": 431, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15178", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15178" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ], "site_lbl": "Ser431" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.", "journal": "Human molecular genetics", "date": "1999", "authors": "Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9796292", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9796292" } ], "reference": [ { "type": "PubMed", "id": "10441331", "url": "https://glygen.org/publication/PubMed/10441331" } ] }, { "title": "The transcription factor snail is a repressor of E-cadherin gene expression in epithelial tumour cells.", "journal": "Nature cell biology", "date": "2000", "authors": "Batlle E, Sancho E, Franci C, Dominguez D, Monfar M, Baulida J, Garcia De Herreros A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9758919", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9758919" } ], "reference": [ { "type": "PubMed", "id": "10655587", "url": "https://glygen.org/publication/PubMed/10655587" } ] }, { "title": "TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).", "journal": "Journal of cellular biochemistry", "date": "2004-05-01", "authors": "Sun Guifeng, Lewis Lisa E, Huang Xu, Nguyen Quang, Price Christopher, Huang Taosheng", "evidence": [ { "database": "Reactome", "id": "R-HSA-9733709", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733709" } ], 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Medicine", "date": "2021", "authors": "Sheppard HE, Dall'Agnese A, Park WD, Shamim MH, Dubrulle J, Johnson HL, Stossi F, Cogswell P, Sommer J, Levy J, Sharifnia T, Wawer MJ, Nabet B, Gray NS, Clemons PA, Schreiber SL, Workman P, Young RA, Lin CY", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" } ], "reference": [ { "type": "PubMed", "id": "33521702", "url": "https://glygen.org/publication/PubMed/33521702" } ] }, { "title": "Machine learning based tissue analysis reveals Brachyury has a diagnosis value in breast cancer.", "journal": "Bioscience reports", "date": "2021", "authors": "Li K, Wang Q, Lu Y, Pan X, Liu L, Cheng S, Wu B, Song Z, Gao W", "evidence": [ { "database": "RefSeq", "id": "NP_001257413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257413" } ], "reference": [ { "type": "PubMed", "id": "33734319", "url": "https://glygen.org/publication/PubMed/33734319" } ] }, { "title": "miR-219-5p targets TBXT 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