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TBR1 (T-box brain transcription factor 1)

Identity

Alias_namesT-box, brain, 1
Other aliasIDDAS
TBR-1
TES-56
HGNC (Hugo) TBR1
LocusID (NCBI) 10716
Atlas_Id 74550
Location 2q24.2  [Link to chromosome band 2q24]
Location_base_pair Starts at 161416094 and ends at 161425867 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)TBR1   11590
Cards
Entrez_Gene (NCBI)TBR1  10716  T-box brain transcription factor 1
AliasesIDDAS; TBR-1; TES-56
GeneCards (Weizmann)TBR1
Ensembl hg19 (Hinxton)ENSG00000136535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136535 [Gene_View]  ENSG00000136535 [Sequence]  chr2:161416094-161425867 [Contig_View]  TBR1 [Vega]
ICGC DataPortalENSG00000136535
TCGA cBioPortalTBR1
AceView (NCBI)TBR1
Genatlas (Paris)TBR1
WikiGenes10716
SOURCE (Princeton)TBR1
Genetics Home Reference (NIH)TBR1
Genomic and cartography
GoldenPath hg38 (UCSC)TBR1  -     chr2:161416094-161425867 +  2q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBR1  -     2q24.2   [Description]    (hg19-Feb_2009)
GoldenPathTBR1 - 2q24.2 [CytoView hg19]  TBR1 - 2q24.2 [CytoView hg38]
ImmunoBaseENSG00000136535
Mapping of homologs : NCBITBR1 [Mapview hg19]  TBR1 [Mapview hg38]
OMIM604616   606053   
Gene and transcription
Genbank (Entrez)AK226050 AK297168 AK297438 AK299533 AK312567
RefSeq transcript (Entrez)NM_006593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBR1
Cluster EST : UnigeneHs.592557 [ NCBI ]
CGAP (NCI)Hs.592557
Alternative Splicing GalleryENSG00000136535
Gene ExpressionTBR1 [ NCBI-GEO ]   TBR1 [ EBI - ARRAY_EXPRESS ]   TBR1 [ SEEK ]   TBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10716
GTEX Portal (Tissue expression)TBR1
Human Protein AtlasENSG00000136535-TBR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16650   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16650  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16650
Splice isoforms : SwissVarQ16650
PhosPhoSitePlusQ16650
Domaine pattern : Prosite (Expaxy)TBOX_1 (PS01283)    TBOX_2 (PS01264)    TBOX_3 (PS50252)   
Domains : Interpro (EBI)p53-like_TF_DNA-bd    T-box_assoc    T-box_sf    TF_T-box    TF_T-box_CS   
Domain families : Pfam (Sanger)T-box (PF00907)    T-box_assoc (PF16176)   
Domain families : Pfam (NCBI)pfam00907    pfam16176   
Domain families : Smart (EMBL)TBOX (SM00425)  
Conserved Domain (NCBI)TBR1
DMDM Disease mutations10716
Blocks (Seattle)TBR1
SuperfamilyQ16650
Human Protein Atlas [tissue]ENSG00000136535-TBR1 [tissue]
Peptide AtlasQ16650
HPRD07055
IPIIPI00003421   IPI00922565   IPI00917272   IPI00916773   
Protein Interaction databases
DIP (DOE-UCLA)Q16650
IntAct (EBI)Q16650
FunCoupENSG00000136535
BioGRIDTBR1
STRING (EMBL)TBR1
ZODIACTBR1
Ontologies - Pathways
QuickGOQ16650
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  DNA-binding transcription activator activity, RNA polymerase II-specific  conditioned taste aversion  cell fate specification  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  brain development  specification of animal organ identity  regulation of neuron projection development  protein kinase binding  amygdala development  commitment of neuronal cell to specific neuron type in forebrain  commitment of neuronal cell to specific neuron type in forebrain  cerebral cortex development  hindbrain development  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  regulation of axon guidance  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  RNA polymerase II activating transcription factor binding  DNA-binding transcription activator activity, RNA polymerase II-specific  conditioned taste aversion  cell fate specification  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  brain development  specification of animal organ identity  regulation of neuron projection development  protein kinase binding  amygdala development  commitment of neuronal cell to specific neuron type in forebrain  commitment of neuronal cell to specific neuron type in forebrain  cerebral cortex development  hindbrain development  identical protein binding  negative regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  regulation of axon guidance  
NDEx NetworkTBR1
Atlas of Cancer Signalling NetworkTBR1
Wikipedia pathwaysTBR1
Orthology - Evolution
OrthoDB10716
GeneTree (enSembl)ENSG00000136535
Phylogenetic Trees/Animal Genes : TreeFamTBR1
HOGENOMQ16650
Homologs : HomoloGeneTBR1
Homology/Alignments : Family Browser (UCSC)TBR1
Gene fusions - Rearrangements
Fusion : QuiverTBR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBR1
dbVarTBR1
ClinVarTBR1
1000_GenomesTBR1 
Exome Variant ServerTBR1
ExAC (Exome Aggregation Consortium)ENSG00000136535
GNOMAD BrowserENSG00000136535
Varsome BrowserTBR1
Genetic variants : HAPMAP10716
Genomic Variants (DGV)TBR1 [DGVbeta]
DECIPHERTBR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBR1 
Mutations
ICGC Data PortalTBR1 
TCGA Data PortalTBR1 
Broad Tumor PortalTBR1
OASIS PortalTBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBR1
Mutations and Diseases : HGMDTBR1
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 TBR1
DgiDB (Drug Gene Interaction Database)TBR1
DoCM (Curated mutations)TBR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBR1 (select a term)
intoGenTBR1
Cancer3DTBR1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604616    606053   
Orphanet
DisGeNETTBR1
MedgenTBR1
Genetic Testing Registry TBR1
NextProtQ16650 [Medical]
TSGene10716
GENETestsTBR1
Target ValidationTBR1
Huge Navigator TBR1 [HugePedia]
snp3D : Map Gene to Disease10716
BioCentury BCIQTBR1
ClinGenTBR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10716
Chemical/Pharm GKB GenePA36354
Clinical trialTBR1
Miscellaneous
canSAR (ICR)TBR1 (select the gene name)
DataMed IndexTBR1
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBR1
EVEXTBR1
GoPubMedTBR1
iHOPTBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Sep 3 16:09:28 CEST 2019

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