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IBTK (inhibitor of Bruton tyrosine kinase)

Identity

Alias_namesBTKI
Bruton agammaglobulinemia tyrosine kinase inhibitor
inhibitor of Bruton agammaglobulinemia tyrosine kinase
Alias_symbol (synonym)DKFZP564B116
BTBD26
Other alias
HGNC (Hugo) IBTK
LocusID (NCBI) 25998
Atlas_Id 54371
Location 6q14.1  [Link to chromosome band 6q14]
Location_base_pair Starts at 82169987 and ends at 82247754 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)
IBTK (6q14.1) / DDX18 (2q14.1)IBTK (6q14.1) / IBTK (6q14.1)IBTK (6q14.1) / NCK1 (3q22.3)
IBTK (6q14.1) / SRP54 (14q13.2)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;6)(q22;q14) IBTK/NCK1


External links

Nomenclature
HGNC (Hugo)IBTK   17853
Cards
Entrez_Gene (NCBI)IBTK  25998  inhibitor of Bruton tyrosine kinase
AliasesBTBD26; BTKI
GeneCards (Weizmann)IBTK
Ensembl hg19 (Hinxton)ENSG00000005700 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000005700 [Gene_View]  ENSG00000005700 [Sequence]  chr6:82169987-82247754 [Contig_View]  IBTK [Vega]
ICGC DataPortalENSG00000005700
TCGA cBioPortalIBTK
AceView (NCBI)IBTK
Genatlas (Paris)IBTK
WikiGenes25998
SOURCE (Princeton)IBTK
Genetics Home Reference (NIH)IBTK
Genomic and cartography
GoldenPath hg38 (UCSC)IBTK  -     chr6:82169987-82247754 -  6q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IBTK  -     6q14.1   [Description]    (hg19-Feb_2009)
EnsemblIBTK - 6q14.1 [CytoView hg19]  IBTK - 6q14.1 [CytoView hg38]
Mapping of homologs : NCBIIBTK [Mapview hg19]  IBTK [Mapview hg38]
OMIM606457   
Gene and transcription
Genbank (Entrez)AB037838 AF235049 AJ420588 AJ420593 AK123460
RefSeq transcript (Entrez)NM_001300906 NM_015525
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IBTK
Cluster EST : UnigeneHs.306425 [ NCBI ]
CGAP (NCI)Hs.306425
Alternative Splicing GalleryENSG00000005700
Gene ExpressionIBTK [ NCBI-GEO ]   IBTK [ EBI - ARRAY_EXPRESS ]   IBTK [ SEEK ]   IBTK [ MEM ]
Gene Expression Viewer (FireBrowse)IBTK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25998
GTEX Portal (Tissue expression)IBTK
Human Protein AtlasENSG00000005700-IBTK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2D0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2D0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2D0
Splice isoforms : SwissVarQ9P2D0
PhosPhoSitePlusQ9P2D0
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    BTB (PS50097)    RCC1_3 (PS50012)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    BTB/POZ_dom    RCC1/BLIP-II    Reg_chr_condens    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    BTB (PF00651)    RCC1 (PF00415)   
Domain families : Pfam (NCBI)pfam12796    pfam00651    pfam00415   
Domain families : Smart (EMBL)ANK (SM00248)  BTB (SM00225)  
Conserved Domain (NCBI)IBTK
DMDM Disease mutations25998
Blocks (Seattle)IBTK
SuperfamilyQ9P2D0
Human Protein Atlas [tissue]ENSG00000005700-IBTK [tissue]
Peptide AtlasQ9P2D0
HPRD12105
IPIIPI00792333   IPI00829736   IPI00910313   IPI00827548   IPI00964851   IPI00964822   IPI00964356   IPI00964091   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2D0
IntAct (EBI)Q9P2D0
FunCoupENSG00000005700
BioGRIDIBTK
STRING (EMBL)IBTK
ZODIACIBTK
Ontologies - Pathways
QuickGOQ9P2D0
Ontology : AmiGOnegative regulation of protein phosphorylation  nucleoplasm  cytoplasm  membrane  protein kinase binding  protein tyrosine kinase inhibitor activity  release of sequestered calcium ion into cytosol  negative regulation of protein tyrosine kinase activity  
Ontology : EGO-EBInegative regulation of protein phosphorylation  nucleoplasm  cytoplasm  membrane  protein kinase binding  protein tyrosine kinase inhibitor activity  release of sequestered calcium ion into cytosol  negative regulation of protein tyrosine kinase activity  
NDEx NetworkIBTK
Atlas of Cancer Signalling NetworkIBTK
Wikipedia pathwaysIBTK
Orthology - Evolution
OrthoDB25998
GeneTree (enSembl)ENSG00000005700
Phylogenetic Trees/Animal Genes : TreeFamIBTK
HOVERGENQ9P2D0
HOGENOMQ9P2D0
Homologs : HomoloGeneIBTK
Homology/Alignments : Family Browser (UCSC)IBTK
Gene fusions - Rearrangements
Fusion : MitelmanIBTK/NCK1 [6q14.1/3q22.3]  
Fusion : QuiverIBTK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIBTK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IBTK
dbVarIBTK
ClinVarIBTK
1000_GenomesIBTK 
Exome Variant ServerIBTK
ExAC (Exome Aggregation Consortium)ENSG00000005700
GNOMAD BrowserENSG00000005700
Genetic variants : HAPMAP25998
Genomic Variants (DGV)IBTK [DGVbeta]
DECIPHERIBTK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIBTK 
Mutations
ICGC Data PortalIBTK 
TCGA Data PortalIBTK 
Broad Tumor PortalIBTK
OASIS PortalIBTK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIBTK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIBTK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IBTK
DgiDB (Drug Gene Interaction Database)IBTK
DoCM (Curated mutations)IBTK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IBTK (select a term)
intoGenIBTK
Cancer3DIBTK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606457   
Orphanet
DisGeNETIBTK
MedgenIBTK
Genetic Testing Registry IBTK
NextProtQ9P2D0 [Medical]
TSGene25998
GENETestsIBTK
Target ValidationIBTK
Huge Navigator IBTK [HugePedia]
snp3D : Map Gene to Disease25998
BioCentury BCIQIBTK
ClinGenIBTK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25998
Chemical/Pharm GKB GenePA134898277
Clinical trialIBTK
Miscellaneous
canSAR (ICR)IBTK (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIBTK
EVEXIBTK
GoPubMedIBTK
iHOPIBTK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:30:08 CEST 2018

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