{ "uniprot_canonical_ac": "O43435-1", "uniprot_ac": "O43435", "uniprot_id": "TBX1_HUMAN", "mass": { "chemical_mass": 43133.0, "monoisotopic_mass": 43133.0 }, "refseq": { "ac": "NP_005983", "name": "T-box transcription factor TBX1 isoform B", "summary": "This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, "gene_names": [ { "name": "TBX1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43435", "id": "O43435" }, { "name": "CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "id": "NP_005983" }, { "name": "TBX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "id": "NP_005983" } ], "protein_names": [ { "name": "T-box transcription factor TBX1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43435" }, { "name": "T-box protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43435" }, { "name": "T-box transcription factor TBX1 isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "id": "NP_005983" }, { "name": "Testis-specific T-box protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43435" }, { "name": "brachyury; T-box 1 transcription factor C; Testis-specific T-box protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "id": "NP_005983" } ], "function": [ { "annotation": "Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus.", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, { "database": "PubMed", "id": "37227215", "url": "https://glygen.org/publication/PubMed/37227215" } ] }, { "annotation": "Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, { "database": "PubMed", "id": "35095830", "url": "https://glygen.org/publication/PubMed/35095830" } ] }, { "annotation": "Conserved enhancers control notochord expression of vertebrate Brachyury. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, { "database": "PubMed", "id": "37852970", "url": "https://glygen.org/publication/PubMed/37852970" } ] }, { "annotation": "Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, { "database": "PubMed", "id": "38203204", "url": "https://glygen.org/publication/PubMed/38203204" } ] }, { "annotation": "TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression.", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" }, { "database": "PubMed", "id": "34919666", "url": "https://glygen.org/publication/PubMed/34919666" } ] }, { "annotation": "This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" } ] }, { "annotation": "Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039, PubMed:22095455).", "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435#function" }, { "database": "PubMed", "id": "11111039", "url": "https://glygen.org/publication/PubMed/11111039" }, { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprot/P70323#function" }, { "database": "PubMed", "id": "22095455", "url": "https://glygen.org/publication/PubMed/22095455" } ] } ], "disease": [ { "disease_id": "DOID:11198", "recommended_name": { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production." }, "synonyms": [ { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "22q11.2 deletion syndrome", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge sequence", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "DiGeorge's syndrome", "description": "" }, { "id": "DOID:11198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11198", "name": "Pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome", "description": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "22q deletion syndrome(s)", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "22q11.2 Deletion syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DGS", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DGS1", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Di-George syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge anomaly", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome type 1", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge's syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Shprintzen syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Sphrintzen", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Catch22", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "DiGeorge syndrome chromosome region", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "Takao VCF syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "VCF", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "chromosome 22Q11.2 deletion syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "hypoplasia of thymus and parathyroids", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "third and fourth pharyngeal pouch syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "velo-cardio-facial syndrome", "description": "" }, { "id": "MONDO:0008564", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008564", "name": "velocardiofacial syndrome", "description": "" }, { "id": "MIM:188400", "resource": "MIM", "url": "https://www.omim.org/entry/188400", "name": "DiGeorge syndrome", "description": "DiGeorge syndrome" } ], "evidence": [ { "id": "188400", "database": "MIM", "url": "https://www.omim.org/entry/188400" } ] }, { "disease_id": "DOID:12583", "recommended_name": { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations." }, "synonyms": [ { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "Shprintzen syndrome", "description": "" }, { "id": "DOID:12583", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12583", "name": "VCF-Velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "velocardiofacial syndrome", "description": "A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features." }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "22q11 deletion syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "Shprintzen VCF syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "VCF syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "VCF-velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "deletion 22q11.2 syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "velocardiofacial syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "Shprintzen syndrome", "description": "" }, { "id": "MONDO:0008644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008644", "name": "chromosome 22Q11.2 deletion syndrome", "description": "" }, { "id": "MIM:192430", "resource": "MIM", "url": "https://www.omim.org/entry/192430", "name": "Velocardiofacial syndrome", "description": "Velocardiofacial syndrome" } ], "evidence": [ { "id": "192430", "database": "MIM", "url": "https://www.omim.org/entry/192430" } ] }, { "disease_id": "DOID:6406", "recommended_name": { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "double outlet right ventricle", "description": "" }, "synonyms": [ { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Double outlet right ventricle with subpulmonary ventricular septal defect", "description": "" }, { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Dextrotransposition of aorta", "description": "" }, { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Taussig-Bing syndrome or defect", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations", "description": "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "Taussig-Bing syndrome or defect", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations, variable", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "CTHM", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "Double-outlet right ventricle", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal anomaly face syndrome", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal cardiac defects", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "interrupted aortic Arch", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "persistent truncus arteriosus", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "truncus arteriosus communis", "description": "" }, { "id": "MIM:217095", "resource": "MIM", "url": "https://www.omim.org/entry/217095", "name": "Conotruncal heart malformations", "description": "Conotruncal heart malformations" } ], "evidence": [ { "id": "217095", "database": "MIM", "url": "https://www.omim.org/entry/217095" } ] }, { "disease_id": "DOID:6419", "recommended_name": { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "tetralogy of Fallot", "description": "" }, "synonyms": [ { "id": "DOID:6419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6419", "name": "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy." }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of fallot", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "Fallot tetralogy", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "TOF", "description": "" }, { "id": "MONDO:0008542", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008542", "name": "tetralogy of FALLOT", "description": "" }, { "id": "MIM:187500", "resource": "MIM", "url": "https://www.omim.org/entry/187500", "name": "Tetralogy of Fallot", "description": "Tetralogy of Fallot" } ], "evidence": [ { "id": "187500", "database": "MIM", "url": "https://www.omim.org/entry/187500" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "53.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "60.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "54.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43435" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the 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"MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", 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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43435" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43435" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43435", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43435" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435" } ], "common_name": "Human" } ], "gene": [ { "name": "TBX1", "url": "https://www.uniprot.org/uniprot/O43435", "locus": { "chromosome": "22", "start_pos": 19783593, "end_pos": 19756703, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000184058", "url": "https://www.ensembl.org/id/ENSG00000184058" } ] } } ], "crossref": [ { "id": "ENSG00000184058", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000184058", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd20187", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20187", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TBX1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBX1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6899", "url": "https://www.ncbi.nlm.nih.gov/gene/6899", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11592", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11592", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43435", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43435*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001699", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001699", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008967", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008967", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036960", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036960", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046360", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046360", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6899", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6899", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "187500", "url": "http://www.omim.org/entry/187500", "database": "MIM", "categories": [ "Other" ] }, { "id": "188400", "url": "http://www.omim.org/entry/188400", "database": "MIM", "categories": [ "Other" ] }, { "id": "192430", "url": "http://www.omim.org/entry/192430", "database": "MIM", "categories": [ "Other" ] }, { "id": "217095", "url": "http://www.omim.org/entry/217095", "database": "MIM", "categories": [ "Other" ] }, { "id": "602054", "url": "http://www.omim.org/entry/602054", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43435", "url": "https://www.nextprot.org/entry/NX_O43435", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "HNHSSFK", "url": "https://omabrowser.org/oma/group/HNHSSFK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5323209at2759", "url": "http://www.orthodb.org/?query=5323209at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11267:SF104", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11267:SF104", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4A04", "url": "https://www.rcsb.org/structure/4A04", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00907", "url": "http://pfam.xfam.org/family/PF00907", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43435", "url": "https://pharos.nih.gov/targets/O43435", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43435", "url": "http://purl.obolibrary.org/obo/PR_O43435", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9733709", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733709", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IS18", "url": "https://www.uniprot.org/uniprot/A0A3B3IS18", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IS18-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IS18-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4A3", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4A3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0Z4A3-1", "url": "https://www.uniprot.org/uniprot/A0A7P0Z4A3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TR38", "url": "https://www.uniprot.org/uniprot/A0A8V8TR38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TR38-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TR38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43435-1", "url": "https://www.uniprot.org/uniprot/O43435-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43435-2", "url": "https://www.uniprot.org/uniprot/O43435-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43435-3", "url": "https://www.uniprot.org/uniprot/O43435-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC", "length": 398, "header": "sp|O43435-1|TBX1_HUMAN Isoform 1 of T-box transcription factor TBX1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IS18-1", "url": "", "sequence": { "sequence": "MISAVSSPWLTQLSHFCDVAAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKDAAEARREFQRDAGGPAVLGDPAHPPQLLARVLSPSLPGAGGAGGLVPLPGAPGGRPSPPNPELRLEAPGASEPLHHHPYKYPAAAYDHYLGAKSRPAPYPLPGLRGHGYHPHAHPHHHHHPVSPAAAAAAAAAAAAAAANMYSSAGAAPPGSYDYCPR", "length": 504, "header": "tr|A0A3B3IS18-1|A0A3B3IS18_HUMAN Computationally mapped isoform of T-box transcription factor 1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19766864, "end_pos": 19760844, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649276.2", "url": "https://www.ensembl.org/id/ENST00000649276.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000497003.1", "url": "https://www.ensembl.org/id/ENSP00000497003.1" } ] } }, { "isoform_ac": "A0A7P0Z4A3-1", "url": "", "sequence": { "sequence": "MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQP", "length": 239, "header": "tr|A0A7P0Z4A3-1|A0A7P0Z4A3_HUMAN Computationally mapped isoform of T-box transcription factor 1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19764990, "end_pos": 19759644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680333.1", "url": "https://www.ensembl.org/id/ENST00000680333.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505472.1", "url": "https://www.ensembl.org/id/ENSP00000505472.1" } ] } }, { "isoform_ac": "A0A8V8TR38-1", "url": "", "sequence": { "sequence": "MDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEK", "length": 187, "header": "tr|A0A8V8TR38-1|A0A8V8TR38_HUMAN Computationally mapped isoform of T-box transcription factor 1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19766001, "end_pos": 19763278, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000700274.1", "url": "https://www.ensembl.org/id/ENST00000700274.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514909.1", "url": "https://www.ensembl.org/id/ENSP00000514909.1" } ] } }, { "isoform_ac": "O43435-1", "url": "", "sequence": { "sequence": "MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC", "length": 398, "header": "sp|O43435-1|TBX1_HUMAN Isoform 1 of T-box transcription factor TBX1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19779404, "end_pos": 19759644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000329705.11", "url": "https://www.ensembl.org/id/ENST00000329705.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000331176.7", "url": "https://www.ensembl.org/id/ENSP00000331176.7" } ] } }, { "isoform_ac": "O43435-2", "url": "", "sequence": { "sequence": "MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGLVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT", "length": 372, "header": "sp|O43435-2|TBX1_HUMAN Isoform 2 of T-box transcription factor TBX1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19783019, "end_pos": 19759644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359500.7", "url": "https://www.ensembl.org/id/ENST00000359500.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000352483.3", "url": "https://www.ensembl.org/id/ENSP00000352483.3" } ] } }, { "isoform_ac": "O43435-3", "url": "", "sequence": { "sequence": "MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKDAAEARREFQRDAGGPAVLGDPAHPPQLLARVLSPSLPGAGGAGGLVPLPGAPGGRPSPPNPELRLEAPGASEPLHHHPYKYPAAAYDHYLGAKSRPAPYPLPGLRGHGYHPHAHPHHHHHPVSPAAAAAAAAAAAAAAANMYSSAGAAPPGSYDYCPR", "length": 495, "header": "sp|O43435-3|TBX1_HUMAN Isoform 3 of T-box transcription factor TBX1 OS=Homo sapiens OX=9606 GN=TBX1 PE=1 SV=1 CANONICAL=O43435-1" }, "locus": { "chromosome": "22", "start_pos": 19766864, "end_pos": 19759644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000332710.8", "url": "https://www.ensembl.org/id/ENST00000332710.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000331791.4", "url": "https://www.ensembl.org/id/ENSP00000331791.4" } ] 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Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.", "journal": "American journal of human genetics", "date": "2007", "authors": "Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A", "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435" } ], "reference": [ { "type": "PubMed", "id": "17273972", "url": "https://glygen.org/publication/PubMed/17273972" } ] }, { "title": "NKX2-5 regulates the expression of beta-catenin and GATA4 in ventricular myocytes.", "journal": "PloS one", "date": "2009-05-28", "authors": "Riazi Ali M, Takeuchi Jun K, Hornberger Lisa K, Zaidi Syed 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Med. Genet.", "date": "2010", "authors": "Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Anita", "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435" } ], "reference": [ { "type": "PubMed", "id": "19948535", "url": "https://glygen.org/publication/PubMed/19948535" } ] }, { "title": "Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome.", "journal": "Proteins", "date": "2012-02", "authors": "El Omari Kamel, De Mesmaeker Julie, Karia Dimple, Ginn Helen, Bhattacharya Shoumo, Mancini Erika J", "evidence": [ { "database": "UniProtKB", "id": "O43435", "url": "https://www.uniprot.org/uniprot/O43435" } ], "reference": [ { "type": "PubMed", "id": "22095455", "url": "https://glygen.org/publication/PubMed/22095455" } ] }, { "title": "Dual reporter MESP1 mCherry/w-NKX2-5 eGFP/w hESCs enable 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Jon Al, Morton Sarah U, Gorham Joshua M, DeLaughter Daniel M, Neyazi Meraj, Schmid Manuel, Agarwal Radhika, Jang Min Young, Toepfer Christopher N, Ward Tarsha, Kim Yuri, Pereira Alexandre C, DePalma Steven R, Tai Angela, Kim Seongwon, Conner David, Bernstein Daniel, Gelb Bruce D, Chung Wendy K, Goldmuntz Elizabeth, Porter George, Tristani-Firouzi Martin, Srivastava Deepak, Seidman Jonathan G, Seidman Christine E,", "evidence": [ { "database": "Reactome", "id": "R-HSA-9733709", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9733709" } ], "reference": [ { "type": "PubMed", "id": "33054971", "url": "https://glygen.org/publication/PubMed/33054971" } ] }, { "title": "TBX1 functions as a putative oncogene of breast cancer through promoting cell cycle progression.", "journal": "Carcinogenesis", "date": "2022", "authors": "Huang S, Shu X, Ping J, Wu J, Wang J, Shidal C, Guo X, Bauer JA, Long J, Shu XO, Zheng W, Cai Q", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": 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American Societies for Experimental Biology", "date": "2023", "authors": "Wu Y, Xia Y, Yue C, Xin T, Wang Q, Zhang H, Shen C, Shen M, Gu Y, Shen J", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" } ], "reference": [ { "type": "PubMed", "id": "37227215", "url": "https://glygen.org/publication/PubMed/37227215" } ] }, { "title": "Conserved enhancers control notochord expression of vertebrate Brachyury.", "journal": "Nature communications", "date": "2023-10-18", "authors": "Kemmler Cassie L, Smolikova Jana, Moran Hannah R, Mannion Brandon J, Knapp Dunja, Lim Fabian, Czarkwiani Anna, Hermosilla Aguayo Viviana, Rapp Vincent, Fitch Olivia E, B\u00f6tschi Seraina, Selleri Licia, Farley Emma, Braasch Ingo, Yun Maximina, Visel Axel, Osterwalder Marco, Mosimann Christian, Kozmik Zbynek, Burger Alexa", "evidence": [ { "database": "RefSeq", "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983" } ], "reference": [ 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