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TBL1X (transducin beta like 1X-linked)

Identity

Alias_namesTBL1
transducin (beta)-like 1
transducin (beta)-like 1X-linked
Alias_symbol (synonym)EBI
Other aliasSMAP55
HGNC (Hugo) TBL1X
LocusID (NCBI) 6907
Atlas_Id 55748
Location Xp22.31  [Link to chromosome band Xp22]
Location_base_pair Starts at 9463295 and ends at 9719740 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CEP95 (17q23.3) / TBL1X (Xp22.31)HEATR5B (2p22.2) / TBL1X (Xp22.31)LAMB3 (1q32.2) / TBL1X (Xp22.31)
MOSPD2 (Xp22.2) / TBL1X (Xp22.31)NUCKS1 (1q32.1) / TBL1X (Xp22.31)TBL1X (Xp22.31) / CASK (Xp11.4)
TBL1X (Xp22.31) / GPR143 (Xp22.2)TBL1X (Xp22.31) / MPP5 (14q23.3)TBL1X (Xp22.31) / PAFAH1B2 (11q23.3)
TBL1X (Xp22.31) / TBL1X (Xp22.31)

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)TBL1X   11585
Cards
Entrez_Gene (NCBI)TBL1X  6907  transducin beta like 1X-linked
AliasesEBI; SMAP55; TBL1
GeneCards (Weizmann)TBL1X
Ensembl hg19 (Hinxton)ENSG00000101849 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101849 [Gene_View]  chrX:9463295-9719740 [Contig_View]  TBL1X [Vega]
ICGC DataPortalENSG00000101849
TCGA cBioPortalTBL1X
AceView (NCBI)TBL1X
Genatlas (Paris)TBL1X
WikiGenes6907
SOURCE (Princeton)TBL1X
Genetics Home Reference (NIH)TBL1X
Genomic and cartography
GoldenPath hg38 (UCSC)TBL1X  -     chrX:9463295-9719740 +  Xp22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBL1X  -     Xp22.31   [Description]    (hg19-Feb_2009)
EnsemblTBL1X - Xp22.31 [CytoView hg19]  TBL1X - Xp22.31 [CytoView hg38]
Mapping of homologs : NCBITBL1X [Mapview hg19]  TBL1X [Mapview hg38]
OMIM300196   
Gene and transcription
Genbank (Entrez)AB209608 AK289409 AK290962 BC020374 BC029394
RefSeq transcript (Entrez)NM_001139466 NM_001139467 NM_001139468 NM_005647
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBL1X
Cluster EST : UnigeneHs.495656 [ NCBI ]
CGAP (NCI)Hs.495656
Alternative Splicing GalleryENSG00000101849
Gene ExpressionTBL1X [ NCBI-GEO ]   TBL1X [ EBI - ARRAY_EXPRESS ]   TBL1X [ SEEK ]   TBL1X [ MEM ]
Gene Expression Viewer (FireBrowse)TBL1X [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6907
GTEX Portal (Tissue expression)TBL1X
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60907   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60907  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60907
Splice isoforms : SwissVarO60907
PhosPhoSitePlusO60907
Domaine pattern : Prosite (Expaxy)LISH (PS50896)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    LisH    Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)LisH (PF08513)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08513    pfam00400   
Domain families : Smart (EMBL)LisH (SM00667)  WD40 (SM00320)  
Conserved Domain (NCBI)TBL1X
DMDM Disease mutations6907
Blocks (Seattle)TBL1X
PDB (SRS)2XTC    2XTD    2XTE   
PDB (PDBSum)2XTC    2XTD    2XTE   
PDB (IMB)2XTC    2XTD    2XTE   
PDB (RSDB)2XTC    2XTD    2XTE   
Structural Biology KnowledgeBase2XTC    2XTD    2XTE   
SCOP (Structural Classification of Proteins)2XTC    2XTD    2XTE   
CATH (Classification of proteins structures)2XTC    2XTD    2XTE   
SuperfamilyO60907
Human Protein AtlasENSG00000101849
Peptide AtlasO60907
HPRD02183
IPIIPI00640917   IPI00218132   IPI00639840   IPI00640330   IPI00646880   IPI00646283   
Protein Interaction databases
DIP (DOE-UCLA)O60907
IntAct (EBI)O60907
FunCoupENSG00000101849
BioGRIDTBL1X
STRING (EMBL)TBL1X
ZODIACTBL1X
Ontologies - Pathways
QuickGOO60907
Ontology : AmiGOhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  spindle microtubule  transcription, DNA-templated  proteolysis  sensory perception of sound  beta-catenin binding  protein C-terminus binding  transcription factor binding  histone deacetylation  transcriptional repressor complex  protein domain specific binding  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  transcription regulatory region DNA binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  
Ontology : EGO-EBIhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  spindle microtubule  transcription, DNA-templated  proteolysis  sensory perception of sound  beta-catenin binding  protein C-terminus binding  transcription factor binding  histone deacetylation  transcriptional repressor complex  protein domain specific binding  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  transcription regulatory region DNA binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  canonical Wnt signaling pathway  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkTBL1X
Atlas of Cancer Signalling NetworkTBL1X
Wikipedia pathwaysTBL1X
Orthology - Evolution
OrthoDB6907
GeneTree (enSembl)ENSG00000101849
Phylogenetic Trees/Animal Genes : TreeFamTBL1X
HOVERGENO60907
HOGENOMO60907
Homologs : HomoloGeneTBL1X
Homology/Alignments : Family Browser (UCSC)TBL1X
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBL1X [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBL1X
dbVarTBL1X
ClinVarTBL1X
1000_GenomesTBL1X 
Exome Variant ServerTBL1X
ExAC (Exome Aggregation Consortium)TBL1X (select the gene name)
Genetic variants : HAPMAP6907
Genomic Variants (DGV)TBL1X [DGVbeta]
DECIPHERTBL1X [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBL1X 
Mutations
ICGC Data PortalTBL1X 
TCGA Data PortalTBL1X 
Broad Tumor PortalTBL1X
OASIS PortalTBL1X [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBL1X  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBL1X
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 TBL1X
DgiDB (Drug Gene Interaction Database)TBL1X
DoCM (Curated mutations)TBL1X (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBL1X (select a term)
intoGenTBL1X
Cancer3DTBL1X(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300196   
Orphanet
MedgenTBL1X
Genetic Testing Registry TBL1X
NextProtO60907 [Medical]
TSGene6907
GENETestsTBL1X
Target ValidationTBL1X
Huge Navigator TBL1X [HugePedia]
snp3D : Map Gene to Disease6907
BioCentury BCIQTBL1X
ClinGenTBL1X
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6907
Chemical/Pharm GKB GenePA36349
Clinical trialTBL1X
Miscellaneous
canSAR (ICR)TBL1X (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBL1X
EVEXTBL1X
GoPubMedTBL1X
iHOPTBL1X
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:34:24 CEST 2017

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