Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KHDRBS3 (KH RNA binding domain containing, signal transduction associated 3)

Identity

Alias_namesKH domain containing
Alias_symbol (synonym)T-STAR
Etle
etoile
SALP
SLM2
SLM-2
Other aliasTSTAR
HGNC (Hugo) KHDRBS3
LocusID (NCBI) 10656
Atlas_Id 43701
Location 8q24.23  [Link to chromosome band 8q24]
Location_base_pair Starts at 135457465 and ends at 135647609 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)
ADI1 (2p25.3) / KHDRBS3 (8q24.23)CTAGE5 (14q21.1) / KHDRBS3 (8q24.23)FNDC3B (3q26.31) / KHDRBS3 (8q24.23)
KHDRBS3 (8q24.23) / ADI1 (2p25.3)KHDRBS3 (8q24.23) / TRA ()XKR4 (8q12.1) / KHDRBS3 (8q24.23)
ADI1 2p25.3 / KHDRBS3 8q24.23FNDC3B 3q26.31 / KHDRBS3 8q24.23KHDRBS3 8q24.23 / ADI1 2p25.3

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) [ 3 ]
  t(2;8)(p25;q24) ADI1/KHDRBS3
t(2;8)(p25;q24) KHDRBS3/ADI1
t(3;8)(q26;q24) FNDC3B/KHDRBS3

External links

Nomenclature
HGNC (Hugo)KHDRBS3   18117
Cards
Entrez_Gene (NCBI)KHDRBS3  10656  KH RNA binding domain containing, signal transduction associated 3
AliasesEtle; SALP; SLM-2; SLM2; 
T-STAR; TSTAR; etoile
GeneCards (Weizmann)KHDRBS3
Ensembl hg19 (Hinxton)ENSG00000131773 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131773 [Gene_View]  ENSG00000131773 [Sequence]  chr8:135457465-135647609 [Contig_View]  KHDRBS3 [Vega]
ICGC DataPortalENSG00000131773
TCGA cBioPortalKHDRBS3
AceView (NCBI)KHDRBS3
Genatlas (Paris)KHDRBS3
WikiGenes10656
SOURCE (Princeton)KHDRBS3
Genetics Home Reference (NIH)KHDRBS3
Genomic and cartography
GoldenPath hg38 (UCSC)KHDRBS3  -     chr8:135457465-135647609 +  8q24.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDRBS3  -     8q24.23   [Description]    (hg19-Feb_2009)
EnsemblKHDRBS3 - 8q24.23 [CytoView hg19]  KHDRBS3 - 8q24.23 [CytoView hg38]
Mapping of homologs : NCBIKHDRBS3 [Mapview hg19]  KHDRBS3 [Mapview hg38]
OMIM610421   
Gene and transcription
Genbank (Entrez)AF051321 AF051322 AF069681 BC032606 BC068536
RefSeq transcript (Entrez)NM_006558
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDRBS3
Cluster EST : UnigeneHs.444558 [ NCBI ]
CGAP (NCI)Hs.444558
Alternative Splicing GalleryENSG00000131773
Gene ExpressionKHDRBS3 [ NCBI-GEO ]   KHDRBS3 [ EBI - ARRAY_EXPRESS ]   KHDRBS3 [ SEEK ]   KHDRBS3 [ MEM ]
Gene Expression Viewer (FireBrowse)KHDRBS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10656
GTEX Portal (Tissue expression)KHDRBS3
Human Protein AtlasENSG00000131773-KHDRBS3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75525   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75525  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75525
Splice isoforms : SwissVarO75525
PhosPhoSitePlusO75525
Domains : Interpro (EBI)KH_dom    KH_dom_type_1    KH_dom_type_1_sf    Qua1_dom    Sam68-YY   
Domain families : Pfam (Sanger)KH_1 (PF00013)    Qua1 (PF16274)    Sam68-YY (PF16568)   
Domain families : Pfam (NCBI)pfam00013    pfam16274    pfam16568   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)KHDRBS3
DMDM Disease mutations10656
Blocks (Seattle)KHDRBS3
PDB (SRS)5EL3    5ELR    5ELS    5ELT    5EMO   
PDB (PDBSum)5EL3    5ELR    5ELS    5ELT    5EMO   
PDB (IMB)5EL3    5ELR    5ELS    5ELT    5EMO   
PDB (RSDB)5EL3    5ELR    5ELS    5ELT    5EMO   
Structural Biology KnowledgeBase5EL3    5ELR    5ELS    5ELT    5EMO   
SCOP (Structural Classification of Proteins)5EL3    5ELR    5ELS    5ELT    5EMO   
CATH (Classification of proteins structures)5EL3    5ELR    5ELS    5ELT    5EMO   
SuperfamilyO75525
Human Protein Atlas [tissue]ENSG00000131773-KHDRBS3 [tissue]
Peptide AtlasO75525
HPRD10007
IPIIPI00008570   IPI00744983   IPI00974405   IPI01010991   IPI00980277   IPI00982879   IPI00979673   
Protein Interaction databases
DIP (DOE-UCLA)O75525
IntAct (EBI)O75525
FunCoupENSG00000131773
BioGRIDKHDRBS3
STRING (EMBL)KHDRBS3
ZODIACKHDRBS3
Ontologies - Pathways
QuickGOO75525
Ontology : AmiGORNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  mRNA processing  SH3 domain binding  protein domain specific binding  identical protein binding  regulation of mRNA splicing, via spliceosome  protein complex oligomerization  
Ontology : EGO-EBIRNA binding  RNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  mRNA processing  SH3 domain binding  protein domain specific binding  identical protein binding  regulation of mRNA splicing, via spliceosome  protein complex oligomerization  
NDEx NetworkKHDRBS3
Atlas of Cancer Signalling NetworkKHDRBS3
Wikipedia pathwaysKHDRBS3
Orthology - Evolution
OrthoDB10656
GeneTree (enSembl)ENSG00000131773
Phylogenetic Trees/Animal Genes : TreeFamKHDRBS3
HOVERGENO75525
HOGENOMO75525
Homologs : HomoloGeneKHDRBS3
Homology/Alignments : Family Browser (UCSC)KHDRBS3
Gene fusions - Rearrangements
Fusion : MitelmanADI1/KHDRBS3 [2p25.3/8q24.23]  [t(2;8)(p25;q24)]  
Fusion : MitelmanCTAGE5/KHDRBS3 [14q21.1/8q24.23]  [t(8;14)(q24;q21)]  
Fusion : MitelmanFNDC3B/KHDRBS3 [3q26.31/8q24.23]  [t(3;8)(q26;q24)]  
Fusion : MitelmanKHDRBS3/ADI1 [8q24.23/2p25.3]  [t(2;8)(p25;q24)]  
Fusion PortalADI1 2p25.3 KHDRBS3 8q24.23 BRCA
Fusion PortalFNDC3B 3q26.31 KHDRBS3 8q24.23 LUAD
Fusion PortalKHDRBS3 8q24.23 ADI1 2p25.3 BRCA
Fusion : QuiverKHDRBS3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDRBS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDRBS3
dbVarKHDRBS3
ClinVarKHDRBS3
1000_GenomesKHDRBS3 
Exome Variant ServerKHDRBS3
ExAC (Exome Aggregation Consortium)ENSG00000131773
GNOMAD BrowserENSG00000131773
Varsome BrowserKHDRBS3
Genetic variants : HAPMAP10656
Genomic Variants (DGV)KHDRBS3 [DGVbeta]
DECIPHERKHDRBS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDRBS3 
Mutations
ICGC Data PortalKHDRBS3 
TCGA Data PortalKHDRBS3 
Broad Tumor PortalKHDRBS3
OASIS PortalKHDRBS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDRBS3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHDRBS3
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 KHDRBS3
DgiDB (Drug Gene Interaction Database)KHDRBS3
DoCM (Curated mutations)KHDRBS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDRBS3 (select a term)
intoGenKHDRBS3
Cancer3DKHDRBS3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610421   
Orphanet
DisGeNETKHDRBS3
MedgenKHDRBS3
Genetic Testing Registry KHDRBS3
NextProtO75525 [Medical]
TSGene10656
GENETestsKHDRBS3
Target ValidationKHDRBS3
Huge Navigator KHDRBS3 [HugePedia]
snp3D : Map Gene to Disease10656
BioCentury BCIQKHDRBS3
ClinGenKHDRBS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10656
Chemical/Pharm GKB GenePA30094
Clinical trialKHDRBS3
Miscellaneous
canSAR (ICR)KHDRBS3 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDRBS3
EVEXKHDRBS3
GoPubMedKHDRBS3
iHOPKHDRBS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:30:33 CEST 2018
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