Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX4 (T-box 4)

Identity

Other aliasICPPS
SPS
HGNC (Hugo) TBX4
LocusID (NCBI) 9496
Atlas_Id 74556
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 61452418 and ends at 61485110 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)
TBX4 (17q23.2) / LUC7L2 (7q34)TBX4 (17q23.2) / TBX4 (17q23.2)TRIM25 (17q22) / TBX4 (17q23.2)

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)TBX4   11603
Cards
Entrez_Gene (NCBI)TBX4  9496  T-box 4
AliasesICPPS; SPS
GeneCards (Weizmann)TBX4
Ensembl hg19 (Hinxton)ENSG00000121075 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121075 [Gene_View]  chr17:61452418-61485110 [Contig_View]  TBX4 [Vega]
ICGC DataPortalENSG00000121075
TCGA cBioPortalTBX4
AceView (NCBI)TBX4
Genatlas (Paris)TBX4
WikiGenes9496
SOURCE (Princeton)TBX4
Genetics Home Reference (NIH)TBX4
Genomic and cartography
GoldenPath hg38 (UCSC)TBX4  -     chr17:61452418-61485110 +  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX4  -     17q23.2   [Description]    (hg19-Feb_2009)
EnsemblTBX4 - 17q23.2 [CytoView hg19]  TBX4 - 17q23.2 [CytoView hg38]
Mapping of homologs : NCBITBX4 [Mapview hg19]  TBX4 [Mapview hg38]
OMIM147891   601719   
Gene and transcription
Genbank (Entrez)AF188703 AK310312 BC136403 BC142620 BC144062
RefSeq transcript (Entrez)NM_001321120 NM_018488
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBX4
Cluster EST : UnigeneHs.143907 [ NCBI ]
CGAP (NCI)Hs.143907
Alternative Splicing GalleryENSG00000121075
Gene ExpressionTBX4 [ NCBI-GEO ]   TBX4 [ EBI - ARRAY_EXPRESS ]   TBX4 [ SEEK ]   TBX4 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9496
GTEX Portal (Tissue expression)TBX4
Human Protein AtlasENSG00000121075-TBX4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57082   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57082  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57082
Splice isoforms : SwissVarP57082
PhosPhoSitePlusP57082
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)TBX4
DMDM Disease mutations9496
Blocks (Seattle)TBX4
SuperfamilyP57082
Human Protein Atlas [tissue]ENSG00000121075-TBX4 [tissue]
Peptide AtlasP57082
HPRD03424
IPIIPI00941007   IPI00299081   
Protein Interaction databases
DIP (DOE-UCLA)P57082
IntAct (EBI)P57082
FunCoupENSG00000121075
BioGRIDTBX4
STRING (EMBL)TBX4
ZODIACTBX4
Ontologies - Pathways
QuickGOP57082
Ontology : AmiGOangiogenesis  morphogenesis of an epithelium  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  lung development  embryonic limb morphogenesis  limb morphogenesis  skeletal system morphogenesis  
Ontology : EGO-EBIangiogenesis  morphogenesis of an epithelium  DNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  multicellular organism development  lung development  embryonic limb morphogenesis  limb morphogenesis  skeletal system morphogenesis  
NDEx NetworkTBX4
Atlas of Cancer Signalling NetworkTBX4
Wikipedia pathwaysTBX4
Orthology - Evolution
OrthoDB9496
GeneTree (enSembl)ENSG00000121075
Phylogenetic Trees/Animal Genes : TreeFamTBX4
HOVERGENP57082
HOGENOMP57082
Homologs : HomoloGeneTBX4
Homology/Alignments : Family Browser (UCSC)TBX4
Gene fusions - Rearrangements
Tumor Fusion PortalTBX4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX4
dbVarTBX4
ClinVarTBX4
1000_GenomesTBX4 
Exome Variant ServerTBX4
ExAC (Exome Aggregation Consortium)ENSG00000121075
GNOMAD BrowserENSG00000121075
Genetic variants : HAPMAP9496
Genomic Variants (DGV)TBX4 [DGVbeta]
DECIPHERTBX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX4 
Mutations
ICGC Data PortalTBX4 
TCGA Data PortalTBX4 
Broad Tumor PortalTBX4
OASIS PortalTBX4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBX4
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
BioMutasearch TBX4
DgiDB (Drug Gene Interaction Database)TBX4
DoCM (Curated mutations)TBX4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBX4 (select a term)
intoGenTBX4
Cancer3DTBX4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147891    601719   
Orphanet1676    19868    20328    19278   
DisGeNETTBX4
MedgenTBX4
Genetic Testing Registry TBX4
NextProtP57082 [Medical]
TSGene9496
GENETestsTBX4
Target ValidationTBX4
Huge Navigator TBX4 [HugePedia]
snp3D : Map Gene to Disease9496
BioCentury BCIQTBX4
ClinGenTBX4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9496
Chemical/Pharm GKB GenePA36366
Clinical trialTBX4
Miscellaneous
canSAR (ICR)TBX4 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBX4
EVEXTBX4
GoPubMedTBX4
iHOPTBX4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:37:03 CET 2017

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