Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBX1 (T-box 1)

Identity

Other namesCAFS
CATCH22
CTHM
DGCR
DGS
DORV
TBX1C
TGA
VCF
VCFS
HGNC (Hugo) TBX1
LocusID (NCBI) 6899
Location 22q11.21
Location_base_pair Starts at 19744226 and ends at 19771112 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TBX1   11592
Cards
Entrez_Gene (NCBI)TBX1  6899  T-box 1
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 DataPortalENSG00000184058
cBioPortalTBX1
AceView (NCBI)TBX1
Genatlas (Paris)TBX1
WikiGenes6899
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)
EnsemblTBX1 - 22q11.21 [CytoView hg19]  TBX1 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBITBX1 [Mapview hg19]  TBX1 [Mapview hg38]
OMIM187500   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)AC_000154 NC_000022 NC_018933 NG_009229 NT_011520 NW_001838737 NW_004929429
Consensus coding sequences : CCDS (NCBI)TBX1
Cluster EST : UnigeneHs.173984 [ NCBI ]
CGAP (NCI)Hs.173984
Alternative Splicing : Fast-db (Paris)GSHG0019833
Alternative Splicing GalleryENSG00000184058
Gene ExpressionTBX1 [ NCBI-GEO ]     TBX1 [ SEEK ]   TBX1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43435 (Uniprot)
NextProtO43435  [Medical]
With graphics : InterProO43435
Splice isoforms : SwissVarO43435 (Swissvar)
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   
Related proteins : CluSTrO43435
Domain families : Pfam (Sanger)T-box (PF00907)   
Domain families : Pfam (NCBI)pfam00907   
Domain families : Smart (EMBL)TBOX (SM00425)  
DMDM Disease mutations6899
Blocks (Seattle)O43435
PDB (SRS)4A04   
PDB (PDBSum)4A04   
PDB (IMB)4A04   
PDB (RSDB)4A04   
Human Protein AtlasENSG00000184058
Peptide AtlasO43435
HPRD09069
IPIIPI00395723   IPI00411964   IPI00045335   
Protein Interaction databases
DIP (DOE-UCLA)O43435
IntAct (EBI)O43435
FunCoupENSG00000184058
BioGRIDTBX1
IntegromeDBTBX1
STRING (EMBL)TBX1
Ontologies - Pathways
QuickGOO43435
Ontology : AmiGOangiogenesis  blood vessel development  cell fate specification  neural crest cell migration  positive regulation of protein phosphorylation  lymph vessel development  blood vessel remodeling  positive regulation of mesenchymal cell proliferation  heart morphogenesis  outflow tract septum morphogenesis  outflow tract morphogenesis  DNA binding  sequence-specific DNA binding transcription factor activity  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  otic vesicle morphogenesis  positive regulation of secondary heart field cardioblast proliferation  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-EBIangiogenesis  blood vessel development  cell fate specification  neural crest cell migration  positive regulation of protein phosphorylation  lymph vessel development  blood vessel remodeling  positive regulation of mesenchymal cell proliferation  heart morphogenesis  outflow tract septum morphogenesis  outflow tract morphogenesis  DNA binding  sequence-specific DNA binding transcription factor activity  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  otic vesicle morphogenesis  positive regulation of secondary heart field cardioblast proliferation  cochlea morphogenesis  mesenchymal cell apoptotic process  regulation of organ morphogenesis  positive regulation of tongue muscle cell differentiation  negative regulation of mesenchymal cell apoptotic process  
Protein Interaction DatabaseTBX1
DoCM (Curated mutations)TBX1
Wikipedia pathwaysTBX1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX1
dbVarTBX1
ClinVarTBX1
1000_GenomesTBX1 
Exome Variant ServerTBX1
SNP (GeneSNP Utah)TBX1
SNP : HGBaseTBX1
Genetic variants : HAPMAPTBX1
Genomic VariantsTBX1  TBX1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000184058 
Somatic Mutations in Cancer : COSMICTBX1 
CONAN: Copy Number AnalysisTBX1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:19744226-19771112
Mutations and Diseases : HGMDTBX1
OMIM187500    188400    192430    217095    602054   
MedgenTBX1
NextProtO43435 [Medical]
GENETestsTBX1
Disease Genetic AssociationTBX1
Huge Navigator TBX1 [HugePedia]  TBX1 [HugeCancerGEM]
snp3D : Map Gene to Disease6899
DGIdb (Drug Gene Interaction db)TBX1
General knowledge
Homologs : HomoloGeneTBX1
Homology/Alignments : Family Browser (UCSC)TBX1
Phylogenetic Trees/Animal Genes : TreeFamTBX1
Chemical/Protein Interactions : CTD6899
Chemical/Pharm GKB GenePA36355
Clinical trialTBX1
Cancer Resource (Charite)ENSG00000184058
Other databases
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
CoreMineTBX1
GoPubMedTBX1
iHOPTBX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:51:25 CET 2014
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