| Nomenclature |
|---|
| HGNC (Hugo) | TBX1 11592 |
| LRG (Locus Reference Genomic) | LRG_226 |
| Cards |
|---|
| Entrez_Gene (NCBI) | TBX1 T-box transcription factor 1 |
| Aliases | CAFS; CATCH22; CTHM; DGCR; |
| DGS; DORV; TBX1C; TGA; VCF; VCFS |
| GeneCards (Weizmann) | TBX1 |
| Ensembl hg19 (Hinxton) | ENSG00000184058 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000184058 [Gene_View] ENSG00000184058 [Sequence] chr22:19756703-19767332 [Contig_View] TBX1 [Vega] |
| ICGC DataPortal | ENSG00000184058 |
| TCGA cBioPortal | TBX1 |
| AceView (NCBI) | TBX1 |
| Genatlas (Paris) | TBX1 |
| SOURCE (Princeton) | TBX1 |
| Genetics Home Reference (NIH) | TBX1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | TBX1 - chr22:19756703-19767332 + 22q11.21 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | TBX1 - 22q11.21 [Description] (hg19-Feb_2009) |
| GoldenPath | TBX1 - 22q11.21 [CytoView hg19] TBX1 - 22q11.21 [CytoView hg38] |
| ImmunoBase | ENSG00000184058 |
| Genome Data Viewer NCBI | TBX1 [Mapview hg19] |
| OMIM | 187500 188400 192430 217095 602054 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AF012130 AF012131 AF373867 |
| RefSeq transcript (Entrez) | NM_001379200 NM_005992 NM_080646 NM_080647 |
| Consensus coding sequences : CCDS (NCBI) | TBX1 |
| Gene Expression | TBX1 [ NCBI-GEO ] TBX1 [ EBI - ARRAY_EXPRESS ]
TBX1 [ SEEK ] TBX1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TBX1 [ Firebrowse - Broad ] |
| Genevisible | Expression of TBX1 in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6899 |
| GTEX Portal (Tissue expression) | TBX1 |
| Human Protein Atlas | ENSG00000184058-TBX1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O43435 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | O43435 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O43435 |
| PhosPhoSitePlus | O43435 |
| Domaine pattern : Prosite (Expaxy) | TBOX_1 (PS01283) TBOX_2 (PS01264) TBOX_3 (PS50252) |
| Domains : Interpro (EBI) | p53-like_TF_DNA-bd T-box_sf TF_T-box TF_T-box_CS |
| Domain families : Pfam (Sanger) | T-box (PF00907) |
| Domain families : Pfam (NCBI) | pfam00907 |
| Domain families : Smart (EMBL) | TBOX (SM00425) |
| Conserved Domain (NCBI) | TBX1 |
| PDB (RSDB) | 4A04 |
| PDB Europe | 4A04 |
| PDB (PDBSum) | 4A04 |
| PDB (IMB) | 4A04 |
| Structural Biology KnowledgeBase | 4A04 |
| SCOP (Structural Classification of Proteins) | 4A04 |
| CATH (Classification of proteins structures) | 4A04 |
| Superfamily | O43435 |
| AlphaFold pdb e-kb | O43435 |
| Human Protein Atlas [tissue] | ENSG00000184058-TBX1 [tissue] |
| HPRD | 09069 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O43435 |
| IntAct (EBI) | O43435 |
| BioGRID | TBX1 |
| STRING (EMBL) | TBX1 |
| ZODIAC | TBX1 |
| Ontologies - Pathways |
|---|
| QuickGO | O43435 |
| Ontology : AmiGO | chromatin RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific angiogenesis blood vessel development cell fate specification cell fate specification neural crest cell migration positive regulation of protein phosphorylation lymph vessel development positive regulation of mesenchymal cell proliferation heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell population proliferation positive regulation of cell population proliferation anterior/posterior pattern specification vagus nerve morphogenesis epithelial cell differentiation thyroid gland development social behavior aorta morphogenesis ear morphogenesis inner ear morphogenesis outer ear morphogenesis middle ear morphogenesis odontogenesis of dentin-containing tooth muscle cell fate commitment protein homodimerization activity positive regulation of MAPK cascade sequence-specific DNA binding tongue morphogenesis cellular response to fibroblast growth factor stimulus negative regulation of cell differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II retinoic acid receptor signaling pathway blood vessel morphogenesis thymus development muscle organ morphogenesis embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis semicircular canal morphogenesis artery morphogenesis positive regulation of epithelial cell proliferation parathyroid gland development soft palate development pharyngeal system development face morphogenesis muscle tissue morphogenesis coronary artery morphogenesis enamel mineralization cellular response to retinoic acid cochlea morphogenesis mesenchymal cell apoptotic process sequence-specific double-stranded DNA binding regulation of animal organ morphogenesis positive regulation of tongue muscle cell differentiation negative regulation of mesenchymal cell apoptotic process |
| Ontology : EGO-EBI | chromatin RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific angiogenesis blood vessel development cell fate specification cell fate specification neural crest cell migration positive regulation of protein phosphorylation lymph vessel development positive regulation of mesenchymal cell proliferation heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis DNA-binding transcription factor activity protein binding nucleus regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell population proliferation positive regulation of cell population proliferation anterior/posterior pattern specification vagus nerve morphogenesis epithelial cell differentiation thyroid gland development social behavior aorta morphogenesis ear morphogenesis inner ear morphogenesis outer ear morphogenesis middle ear morphogenesis odontogenesis of dentin-containing tooth muscle cell fate commitment protein homodimerization activity positive regulation of MAPK cascade sequence-specific DNA binding tongue morphogenesis cellular response to fibroblast growth factor stimulus negative regulation of cell differentiation positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II retinoic acid receptor signaling pathway blood vessel morphogenesis thymus development muscle organ morphogenesis embryonic cranial skeleton morphogenesis embryonic viscerocranium morphogenesis semicircular canal morphogenesis artery morphogenesis positive regulation of epithelial cell proliferation parathyroid gland development soft palate development pharyngeal system development face morphogenesis muscle tissue morphogenesis coronary artery morphogenesis enamel mineralization cellular response to retinoic acid cochlea morphogenesis mesenchymal cell apoptotic process sequence-specific double-stranded DNA binding regulation of animal organ morphogenesis positive regulation of tongue muscle cell differentiation negative regulation of mesenchymal cell apoptotic process |
| NDEx Network | TBX1 |
| Atlas of Cancer Signalling Network | TBX1 |
| Wikipedia pathways | TBX1 |
| Orthology - Evolution |
|---|
| OrthoDB | 6899 |
| GeneTree (enSembl) | ENSG00000184058 |
| Phylogenetic Trees/Animal Genes : TreeFam | TBX1 |
| Homologs : HomoloGene | TBX1 |
| Homology/Alignments : Family Browser (UCSC) | TBX1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | TBX1/SEPT5 [22q11.21/22q11.21] |
| Fusion : Quiver | TBX1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | TBX1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TBX1 |
| dbVar | TBX1 |
| ClinVar | TBX1 |
| Monarch | TBX1 |
| 1000_Genomes | TBX1 |
| Exome Variant Server | TBX1 |
| GNOMAD Browser | ENSG00000184058 |
| Varsome Browser | TBX1 |
| ACMG | TBX1 variants |
| Varity | O43435 |
| Genomic Variants (DGV) | TBX1 [DGVbeta] |
| DECIPHER | TBX1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | TBX1 |
| Mutations |
|---|
| ICGC Data Portal | TBX1 |
| TCGA Data Portal | TBX1 |
| Broad Tumor Portal | TBX1 |
| OASIS Portal | TBX1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | TBX1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | TBX1 |
| Mutations and Diseases : HGMD | TBX1 |
| LOVD (Leiden Open Variation Database) | [gene] [transcripts] [variants] |
| BioMuta | TBX1 |
| DgiDB (Drug Gene Interaction Database) | TBX1 |
| DoCM (Curated mutations) | TBX1 |
| CIViC (Clinical Interpretations of Variants in Cancer) | TBX1 |
| Cancer3D | TBX1 |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 187500 188400 192430 217095 602054 |
| Orphanet | 126 126 343 |
| DisGeNET | TBX1 |
| Medgen | TBX1 |
| Genetic Testing Registry | TBX1
|
| NextProt | O43435 [Medical] |
| GENETests | TBX1 |
| Target Validation | TBX1 |
| Huge Navigator |
TBX1 [HugePedia] |
| ClinGen | TBX1 (curated) |
| Clinical trials, drugs, therapy |
|---|
| MyCancerGenome | TBX1 |
| Protein Interactions : CTD | TBX1 |
| Pharm GKB Gene | PA36355 |
| Pharos | O43435 |
| Clinical trial | TBX1 |
| Miscellaneous |
|---|
| canSAR (ICR) | TBX1 |
| Harmonizome | TBX1 |
| DataMed Index | TBX1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 70 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| EVEX | TBX1 |
