Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBX1 (T-box 1)

Identity

Alias_namesVCF
velocardiofacial syndrome
Alias_symbol (synonym)CATCH22
Other aliasCAFS
CTHM
DGCR
DGS
DORV
TBX1C
TGA
VCFS
HGNC (Hugo) TBX1
LocusID (NCBI) 6899
Atlas_Id 42484
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19756703 and ends at 19767332 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TBX1 (22q11.21) / CUL9 (6p21.1)TBX1 (22q11.21) / SEPT5 (22q11.21)TBX1 22q11.21 / SEPT5 22q11.21

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(22;22)(q11;q11) TBX1/SEPT5

External links

Nomenclature
HGNC (Hugo)TBX1   11592
LRG (Locus Reference Genomic)LRG_226
Cards
Entrez_Gene (NCBI)TBX1  6899  T-box 1
AliasesCAFS; CATCH22; CTHM; DGCR; 
DGS; DORV; TBX1C; TGA; VCF; VCFS
GeneCards (Weizmann)TBX1
Ensembl hg19 (Hinxton)ENSG00000184058 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184058 [Gene_View]  chr22:19756703-19767332 [Contig_View]  TBX1 [Vega]
ICGC DataPortalENSG00000184058
TCGA cBioPortalTBX1
AceView (NCBI)TBX1
Genatlas (Paris)TBX1
WikiGenes6899
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)
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
RefSeq transcript (Entrez)NM_005992 NM_080646 NM_080647
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBX1
Cluster EST : UnigeneHs.173984 [ NCBI ]
CGAP (NCI)Hs.173984
Alternative Splicing GalleryENSG00000184058
Gene ExpressionTBX1 [ 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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6899
GTEX Portal (Tissue expression)TBX1
Human Protein AtlasENSG00000184058-TBX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43435   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43435  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43435
Splice isoforms : SwissVarO43435
PhosPhoSitePlusO43435
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)T-box (PF00907)   
Domain families : Pfam (NCBI)pfam00907   
Domain families : Smart (EMBL)TBOX (SM00425)  
Conserved Domain (NCBI)TBX1
DMDM Disease mutations6899
Blocks (Seattle)TBX1
PDB (SRS)4A04   
PDB (PDBSum)4A04   
PDB (IMB)4A04   
PDB (RSDB)4A04   
Structural Biology KnowledgeBase4A04   
SCOP (Structural Classification of Proteins)4A04   
CATH (Classification of proteins structures)4A04   
SuperfamilyO43435
Human Protein Atlas [tissue]ENSG00000184058-TBX1 [tissue]
Peptide AtlasO43435
HPRD09069
IPIIPI00395723   IPI00411964   IPI00045335   
Protein Interaction databases
DIP (DOE-UCLA)O43435
IntAct (EBI)O43435
FunCoupENSG00000184058
BioGRIDTBX1
STRING (EMBL)TBX1
ZODIACTBX1
Ontologies - Pathways
QuickGOO43435
Ontology : AmiGOangiogenesis  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  nucleus  transcription, DNA-templated  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 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 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  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  positive regulation of mesenchymal cell proliferation  heart morphogenesis  outflow tract septum morphogenesis  outflow tract morphogenesis  DNA binding transcription factor activity  nucleus  transcription, DNA-templated  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 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 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  regulation of organ morphogenesis  positive regulation of tongue muscle cell differentiation  negative regulation of mesenchymal cell apoptotic process  
NDEx NetworkTBX1
Atlas of Cancer Signalling NetworkTBX1
Wikipedia pathwaysTBX1
Orthology - Evolution
OrthoDB6899
GeneTree (enSembl)ENSG00000184058
Phylogenetic Trees/Animal Genes : TreeFamTBX1
HOVERGENO43435
HOGENOMO43435
Homologs : HomoloGeneTBX1
Homology/Alignments : Family Browser (UCSC)TBX1
Gene fusions - Rearrangements
Fusion : MitelmanTBX1/SEPT5 [22q11.21/22q11.21]  
Fusion: TCGA_MDACCTBX1 22q11.21 SEPT5 22q11.21 LUAD
Fusion PortalTBX1 22q11.21 SEPT5 22q11.21 LUAD
Fusion : QuiverTBX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX1
dbVarTBX1
ClinVarTBX1
1000_GenomesTBX1 
Exome Variant ServerTBX1
ExAC (Exome Aggregation Consortium)ENSG00000184058
GNOMAD BrowserENSG00000184058
Genetic variants : HAPMAP6899
Genomic Variants (DGV)TBX1 [DGVbeta]
DECIPHERTBX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX1 
Mutations
ICGC Data PortalTBX1 
TCGA Data PortalTBX1 
Broad Tumor PortalTBX1
OASIS PortalTBX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBX1
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
BioMutasearch 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)
intoGenTBX1
Cancer3DTBX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM187500    188400    192430    217095    602054   
Orphanet126    126    343   
DisGeNETTBX1
MedgenTBX1
Genetic Testing Registry TBX1
NextProtO43435 [Medical]
TSGene6899
GENETestsTBX1
Target ValidationTBX1
Huge Navigator TBX1 [HugePedia]
snp3D : Map Gene to Disease6899
BioCentury BCIQTBX1
ClinGenTBX1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6899
Chemical/Pharm GKB GenePA36355
Clinical trialTBX1
Miscellaneous
canSAR (ICR)TBX1 (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBX1
EVEXTBX1
GoPubMedTBX1
iHOPTBX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:41:03 CET 2018
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