Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX6 (T-box 6)

Identity

Other aliasSCDO5
HGNC (Hugo) TBX6
LocusID (NCBI) 6911
Atlas_Id 74558
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30085794 and ends at 30091884 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)

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)TBX6   11605
Cards
Entrez_Gene (NCBI)TBX6  6911  T-box 6
AliasesSCDO5
GeneCards (Weizmann)TBX6
Ensembl hg19 (Hinxton)ENSG00000149922 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149922 [Gene_View]  chr16:30085794-30091884 [Contig_View]  TBX6 [Vega]
ICGC DataPortalENSG00000149922
TCGA cBioPortalTBX6
AceView (NCBI)TBX6
Genatlas (Paris)TBX6
WikiGenes6911
SOURCE (Princeton)TBX6
Genetics Home Reference (NIH)TBX6
Genomic and cartography
GoldenPath hg38 (UCSC)TBX6  -     chr16:30085794-30091884 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX6  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblTBX6 - 16p11.2 [CytoView hg19]  TBX6 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBITBX6 [Mapview hg19]  TBX6 [Mapview hg38]
OMIM122600   602427   
Gene and transcription
Genbank (Entrez)AJ007989 AK022330 BC026031 EU446659 KJ534981
RefSeq transcript (Entrez)NM_004608 NM_080758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBX6
Cluster EST : UnigeneHs.198301 [ NCBI ]
CGAP (NCI)Hs.198301
Alternative Splicing GalleryENSG00000149922
Gene ExpressionTBX6 [ NCBI-GEO ]   TBX6 [ EBI - ARRAY_EXPRESS ]   TBX6 [ SEEK ]   TBX6 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6911
GTEX Portal (Tissue expression)TBX6
Human Protein AtlasENSG00000149922-TBX6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95947   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95947  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95947
Splice isoforms : SwissVarO95947
PhosPhoSitePlusO95947
Domaine pattern : Prosite (Expaxy)TBOX_1 (PS01283)    TBOX_2 (PS01264)    TBOX_3 (PS50252)   
Domains : Interpro (EBI)p53-like_TF_DNA-bd    TF_Brachyury    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)TBX6
DMDM Disease mutations6911
Blocks (Seattle)TBX6
SuperfamilyO95947
Human Protein Atlas [tissue]ENSG00000149922-TBX6 [tissue]
Peptide AtlasO95947
HPRD03888
IPIIPI00296043   IPI01024902   
Protein Interaction databases
DIP (DOE-UCLA)O95947
IntAct (EBI)O95947
FunCoupENSG00000149922
BioGRIDTBX6
STRING (EMBL)TBX6
ZODIACTBX6
Ontologies - Pathways
QuickGOO95947
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  mesoderm formation  cell fate specification  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription, DNA-templated  mesoderm development  anatomical structure morphogenesis  negative regulation of neuron projection development  negative regulation of neuron maturation  signal transduction involved in regulation of gene expression  somite rostral/caudal axis specification  positive regulation of transcription from RNA polymerase II promoter  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  transcriptional repressor activity, RNA polymerase II transcription factor binding  mesoderm formation  cell fate specification  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription, DNA-templated  mesoderm development  anatomical structure morphogenesis  negative regulation of neuron projection development  negative regulation of neuron maturation  signal transduction involved in regulation of gene expression  somite rostral/caudal axis specification  positive regulation of transcription from RNA polymerase II promoter  
NDEx NetworkTBX6
Atlas of Cancer Signalling NetworkTBX6
Wikipedia pathwaysTBX6
Orthology - Evolution
OrthoDB6911
GeneTree (enSembl)ENSG00000149922
Phylogenetic Trees/Animal Genes : TreeFamTBX6
HOVERGENO95947
HOGENOMO95947
Homologs : HomoloGeneTBX6
Homology/Alignments : Family Browser (UCSC)TBX6
Gene fusions - Rearrangements
Fusion: Tumor Portal TBX6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX6
dbVarTBX6
ClinVarTBX6
1000_GenomesTBX6 
Exome Variant ServerTBX6
ExAC (Exome Aggregation Consortium)ENSG00000149922
GNOMAD BrowserENSG00000149922
Genetic variants : HAPMAP6911
Genomic Variants (DGV)TBX6 [DGVbeta]
DECIPHERTBX6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX6 
Mutations
ICGC Data PortalTBX6 
TCGA Data PortalTBX6 
Broad Tumor PortalTBX6
OASIS PortalTBX6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBX6
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 TBX6
DgiDB (Drug Gene Interaction Database)TBX6
DoCM (Curated mutations)TBX6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBX6 (select a term)
intoGenTBX6
Cancer3DTBX6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM122600    602427   
Orphanet2841   
MedgenTBX6
Genetic Testing Registry TBX6
NextProtO95947 [Medical]
TSGene6911
GENETestsTBX6
Target ValidationTBX6
Huge Navigator TBX6 [HugePedia]
snp3D : Map Gene to Disease6911
BioCentury BCIQTBX6
ClinGenTBX6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6911
Chemical/Pharm GKB GenePA36368
Clinical trialTBX6
Miscellaneous
canSAR (ICR)TBX6 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBX6
EVEXTBX6
GoPubMedTBX6
iHOPTBX6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:31:53 CET 2017

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