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TBL1X (transducin beta like 1 X-linked)

Identity

Alias (NCBI)CHNG8
EBI
SMAP55
TBL1
HGNC (Hugo) TBL1X
HGNC Alias symbEBI
HGNC Previous nameTBL1
HGNC Previous nametransducin (beta)-like 1
 transducin (beta)-like 1X-linked
LocusID (NCBI) 6907
Atlas_Id 55748
Location Xp22.31  [Link to chromosome band Xp22]
Location_base_pair Starts at 9465058 and ends at 9719740 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)
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    transducin beta like 1 X-linked
AliasesCHNG8; EBI; SMAP55; TBL1
GeneCards (Weizmann)TBL1X
Ensembl hg19 (Hinxton)ENSG00000101849 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101849 [Gene_View]  ENSG00000101849 [Sequence]  chrX:9465058-9719740 [Contig_View]  TBL1X [Vega]
ICGC DataPortalENSG00000101849
TCGA cBioPortalTBL1X
AceView (NCBI)TBL1X
Genatlas (Paris)TBL1X
SOURCE (Princeton)TBL1X
Genetics Home Reference (NIH)TBL1X
Genomic and cartography
GoldenPath hg38 (UCSC)TBL1X  -     chrX:9465058-9719740 +  Xp22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBL1X  -     Xp22.31   [Description]    (hg19-Feb_2009)
GoldenPathTBL1X - Xp22.31 [CytoView hg19]  TBL1X - Xp22.31 [CytoView hg38]
ImmunoBaseENSG00000101849
Genome Data Viewer NCBITBL1X [Mapview hg19]  
OMIM300196   301033   
Gene and transcription
Genbank (Entrez)AB209608 AK289409 AK290962 BC020374 BC029394
RefSeq transcript (Entrez)NM_001139466 NM_001139467 NM_001139468 NM_005647
Consensus coding sequences : CCDS (NCBI)TBL1X
Gene ExpressionTBL1X [ NCBI-GEO ]   TBL1X [ EBI - ARRAY_EXPRESS ]   TBL1X [ SEEK ]   TBL1X [ MEM ]
Gene Expression Viewer (FireBrowse)TBL1X [ Firebrowse - Broad ]
GenevisibleExpression of TBL1X in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6907
GTEX Portal (Tissue expression)TBL1X
Human Protein AtlasENSG00000101849-TBL1X [pathology]   [cell]   [tissue]
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
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_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
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
PDB (RSDB)2XTC    2XTD    2XTE   
PDB Europe2XTC    2XTD    2XTE   
PDB (PDBSum)2XTC    2XTD    2XTE   
PDB (IMB)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
AlphaFold pdb e-kbO60907   
Human Protein Atlas [tissue]ENSG00000101849-TBL1X [tissue]
HPRD02183
Protein Interaction databases
DIP (DOE-UCLA)O60907
IntAct (EBI)O60907
BioGRIDTBL1X
STRING (EMBL)TBL1X
ZODIACTBL1X
Ontologies - Pathways
QuickGOO60907
Ontology : AmiGOhistone deacetylase complex  histone deacetylase complex  negative regulation of transcription by RNA polymerase II  transcription cis-regulatory region binding  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  proteolysis  sensory perception of sound  beta-catenin binding  protein C-terminus binding  transcription factor binding  histone deacetylation  transcription repressor complex  regulation of lipid metabolic process  protein domain specific binding  intracellular receptor signaling pathway  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein stabilization  mitotic spindle  positive regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIhistone deacetylase complex  histone deacetylase complex  negative regulation of transcription by RNA polymerase II  transcription cis-regulatory region binding  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  proteolysis  sensory perception of sound  beta-catenin binding  protein C-terminus binding  transcription factor binding  histone deacetylation  transcription repressor complex  regulation of lipid metabolic process  protein domain specific binding  intracellular receptor signaling pathway  histone binding  proteasome-mediated ubiquitin-dependent protein catabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  protein stabilization  mitotic spindle  positive regulation of 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
Homologs : HomoloGeneTBL1X
Homology/Alignments : Family Browser (UCSC)TBL1X
Gene fusions - Rearrangements
Fusion : QuiverTBL1X
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBL1X [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBL1X
dbVarTBL1X
ClinVarTBL1X
MonarchTBL1X
1000_GenomesTBL1X 
Exome Variant ServerTBL1X
GNOMAD BrowserENSG00000101849
Varsome BrowserTBL1X
ACMGTBL1X variants
VarityO60907
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]  
Somatic Mutations in Cancer : COSMIC3DTBL1X
Mutations and Diseases : HGMDTBL1X
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBL1X
DgiDB (Drug Gene Interaction Database)TBL1X
DoCM (Curated mutations)TBL1X
CIViC (Clinical Interpretations of Variants in Cancer)TBL1X
Cancer3DTBL1X
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300196    301033   
Orphanet
DisGeNETTBL1X
MedgenTBL1X
Genetic Testing Registry TBL1X
NextProtO60907 [Medical]
GENETestsTBL1X
Target ValidationTBL1X
Huge Navigator TBL1X [HugePedia]
ClinGenTBL1X
Clinical trials, drugs, therapy
MyCancerGenomeTBL1X
Protein Interactions : CTDTBL1X
Pharm GKB GenePA36349
PharosO60907
Clinical trialTBL1X
Miscellaneous
canSAR (ICR)TBL1X
HarmonizomeTBL1X
DataMed IndexTBL1X
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBL1X
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 : Mon Oct 4 15:34:28 CEST 2021

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