| Nomenclature |
|---|
| HGNC (Hugo) | TBX1 11592 |
| Cards |
|---|
| Entrez_Gene (NCBI) | TBX1 6899 T-box 1 |
| Aliases | CAFS; CATCH22; CTHM; DGCR; |
| DGS; DORV; TBX1C; TGA; VCF; VCFS |
| GeneCards (Weizmann) | TBX1 |
| Ensembl hg19 (Hinxton) | ENSG00000184058 [Gene_View] chr22:19744226-19771112 [Contig_View] TBX1 [Vega] |
| Ensembl hg38 (Hinxton) | ENSG00000184058 [Gene_View] chr22:19744226-19771112 [Contig_View] TBX1 [Vega] |
| ICGC DataPortal | ENSG00000184058 |
| TCGA cBioPortal | TBX1 |
| AceView (NCBI) | TBX1 |
| Genatlas (Paris) | TBX1 |
| WikiGenes | 6899 |
| SOURCE (Princeton) | TBX1 |
| Genomic and cartography |
|---|
| GoldenPath hg19 (UCSC) | TBX1 - chr22:19744226-19771112 + 22q11.21 [Description] (hg19-Feb_2009) |
| GoldenPath hg38 (UCSC) | TBX1 - 22q11.21 [Description] (hg38-Dec_2013) |
| Ensembl | TBX1 - 22q11.21 [CytoView hg19] TBX1 - 22q11.21 [CytoView hg38] |
| Mapping of homologs : NCBI | TBX1 [Mapview hg19] TBX1 [Mapview hg38] |
| OMIM | 187500 188400 192430 217095 602054 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AF012130 AF012131 AF373867 GU014843 |
| RefSeq transcript (Entrez) | NM_005992 NM_080646 NM_080647 |
| RefSeq genomic (Entrez) | NC_000022 NC_018933 NG_009229 NT_011520 NW_004929429 |
| Consensus coding sequences : CCDS (NCBI) | TBX1 |
| Cluster EST : Unigene | Hs.173984 [ NCBI ] |
| CGAP (NCI) | Hs.173984 |
| Alternative Splicing Gallery | ENSG00000184058 |
| Gene Expression | TBX1 [ NCBI-GEO ] TBX1 [ EBI - ARRAY_EXPRESS ]
TBX1 [ SEEK ] TBX1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | TBX1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6899 |
| GTEX Portal (Tissue expression) | TBX1 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O43435 (Uniprot) |
| NextProt | O43435 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O43435 |
| Splice isoforms : SwissVar | O43435 (Swissvar) |
| PhosPhoSitePlus | O43435 |
| Domaine pattern : Prosite (Expaxy) | TBOX_1 (PS01283) TBOX_2 (PS01264) TBOX_3 (PS50252) |
| Domains : Interpro (EBI) | p53-like_TF_DNA-bd TF_T-box TF_T-box_CS |
| Domain families : Pfam (Sanger) | |
| Domain families : Pfam (NCBI) | |
| Domain families : Smart (EMBL) | TBOX (SM00425) |
| DMDM Disease mutations | 6899 |
| Blocks (Seattle) | TBX1 |
| PDB (SRS) | 4A04 |
| PDB (PDBSum) | 4A04 |
| PDB (IMB) | 4A04 |
| PDB (RSDB) | 4A04 |
| Structural Biology KnowledgeBase | 4A04 |
| SCOP (Structural Classification of Proteins) | 4A04 |
| CATH (Classification of proteins structures) | 4A04 |
| Superfamily | O43435 |
| Human Protein Atlas | ENSG00000184058 |
| Peptide Atlas | O43435 |
| HPRD | 09069 |
| IPI | IPI00395723 IPI00411964 IPI00045335 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O43435 |
| IntAct (EBI) | O43435 |
| FunCoup | ENSG00000184058 |
| BioGRID | TBX1 |
| STRING (EMBL) | TBX1 |
| ZODIAC | TBX1 |
| Ontologies - Pathways |
|---|
| QuickGO | O43435 |
| Ontology : AmiGO | angiogenesis blood vessel development 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, sequence-specific DNA binding nucleus transcription, DNA-templated regulation of transcription from RNA polymerase II promoter regulation of transcription from RNA polymerase II promoter determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell proliferation positive regulation of cell 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, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity 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 regulation of organ morphogenesis positive regulation of tongue muscle cell differentiation negative regulation of mesenchymal cell apoptotic process |
| Ontology : EGO-EBI | angiogenesis blood vessel development 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, sequence-specific DNA binding nucleus transcription, DNA-templated regulation of transcription from RNA polymerase II promoter regulation of transcription from RNA polymerase II promoter determination of left/right symmetry pattern specification process mesoderm development heart development muscle organ development sensory perception of sound cell proliferation positive regulation of cell 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, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity 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 regulation of 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: TCGA | TBX1 22q11.21 SEPT5 22q11.21 LUAD |
| Polymorphisms : SNP, variants |
|---|
| NCBI Variation Viewer | TBX1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | TBX1 |
| dbVar | TBX1 |
| ClinVar | TBX1 |
| 1000_Genomes | TBX1 |
| Exome Variant Server | TBX1 |
| ExAC (Exome Aggregation Consortium) | TBX1 (select the gene name) |
| Genetic variants : HAPMAP | 6899 |
| Genomic Variants (DGV) | TBX1 [DGVbeta] |
| 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 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| LOVD (Leiden Open Variation Database) | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
| BioMuta | search TBX1 |
| DgiDB (Drug Gene Interaction Database) | TBX1 |
| DoCM (Curated mutations) | TBX1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | TBX1 (select a term) |
| intoGen | TBX1 |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] |
| Diseases |
|---|
| DECIPHER (Syndromes) | 22:19744226-19771112 ENSG00000184058 |
| CONAN: Copy Number Analysis | TBX1 |
| Mutations and Diseases : HGMD | TBX1 |
| OMIM | 187500 188400 192430 217095 602054 |
| Medgen | TBX1 |
| Genetic Testing Registry | TBX1
|
| NextProt | O43435 [Medical] |
| TSGene | 6899 |
| GENETests | TBX1 |
| Huge Navigator |
TBX1 [HugePedia] |
| snp3D : Map Gene to Disease | 6899 |
| BioCentury BCIQ | TBX1 |
| ClinGen | TBX1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6899 |
| Chemical/Pharm GKB Gene | PA36355 |
| Clinical trial | TBX1 |
| Miscellaneous |
|---|
| canSAR (ICR) | TBX1 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 50 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | TBX1 |
| EVEX | TBX1 |
| GoPubMed | TBX1 |
| iHOP | TBX1 |
