Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KHSRP (KH-type splicing regulatory protein)

Identity

Alias_symbol (synonym)KSRP
FBP2
FUBP2
Other aliasp75
HGNC (Hugo) KHSRP
LocusID (NCBI) 8570
Atlas_Id 45774
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6413108 and ends at 6424811 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)
KHSRP (19p13.3) / BHLHE41 (12p12.1)KHSRP (19p13.3) / CD70 (19p13.3)KHSRP (19p13.3) / CRTAP (3p22.3)
KHSRP (19p13.3) / FUBP1 (1p31.1)KHSRP (19p13.3) / IGFBP5 (2q35)KHSRP (19p13.3) / KHSRP (19p13.3)
SAFB2 (19p13.3) / KHSRP (19p13.3)KHSRP 19p13.3 / CD70 19p13.3SAFB2 19p13.3 / KHSRP 19p13.3

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) [ 2 ]
  KHSRP/CD70 (19p13)
SAFB2/KHSRP (19p13)

External links

Nomenclature
HGNC (Hugo)KHSRP   6316
Cards
Entrez_Gene (NCBI)KHSRP  8570  KH-type splicing regulatory protein
AliasesFBP2; FUBP2; KSRP; p75
GeneCards (Weizmann)KHSRP
Ensembl hg19 (Hinxton)ENSG00000088247 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000088247 [Gene_View]  ENSG00000088247 [Sequence]  chr19:6413108-6424811 [Contig_View]  KHSRP [Vega]
ICGC DataPortalENSG00000088247
TCGA cBioPortalKHSRP
AceView (NCBI)KHSRP
Genatlas (Paris)KHSRP
WikiGenes8570
SOURCE (Princeton)KHSRP
Genetics Home Reference (NIH)KHSRP
Genomic and cartography
GoldenPath hg38 (UCSC)KHSRP  -     chr19:6413108-6424811 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHSRP  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblKHSRP - 19p13.3 [CytoView hg19]  KHSRP - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIKHSRP [Mapview hg19]  KHSRP [Mapview hg38]
OMIM603445   
Gene and transcription
Genbank (Entrez)AA976482 AB209662 AK300957 BC009473 BC085004
RefSeq transcript (Entrez)NM_001366299 NM_001366300 NM_003685
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHSRP
Cluster EST : UnigeneHs.727344 [ NCBI ]
CGAP (NCI)Hs.727344
Alternative Splicing GalleryENSG00000088247
Gene ExpressionKHSRP [ NCBI-GEO ]   KHSRP [ EBI - ARRAY_EXPRESS ]   KHSRP [ SEEK ]   KHSRP [ MEM ]
Gene Expression Viewer (FireBrowse)KHSRP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8570
GTEX Portal (Tissue expression)KHSRP
Human Protein AtlasENSG00000088247-KHSRP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92945   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92945  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92945
Splice isoforms : SwissVarQ92945
PhosPhoSitePlusQ92945
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)FUBP_C    KH_dom    KH_dom_type_1    KH_dom_type_1_sf   
Domain families : Pfam (Sanger)DUF1897 (PF09005)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam09005    pfam00013   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)KHSRP
DMDM Disease mutations8570
Blocks (Seattle)KHSRP
PDB (SRS)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
PDB (PDBSum)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
PDB (IMB)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
PDB (RSDB)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
Structural Biology KnowledgeBase2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
SCOP (Structural Classification of Proteins)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
CATH (Classification of proteins structures)2HH2    2HH3    2JVZ    2OPU    2OPV    4B8T   
SuperfamilyQ92945
Human Protein Atlas [tissue]ENSG00000088247-KHSRP [tissue]
Peptide AtlasQ92945
HPRD10350
IPIIPI00479786   IPI00855957   IPI00909344   
Protein Interaction databases
DIP (DOE-UCLA)Q92945
IntAct (EBI)Q92945
FunCoupENSG00000088247
BioGRIDKHSRP
STRING (EMBL)KHSRP
ZODIACKHSRP
Ontologies - Pathways
QuickGOQ92945
Ontology : AmiGOexosome (RNase complex)  RNA splicing, via transesterification reactions  DNA binding  RNA binding  protein binding  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  mRNA processing  mRNA catabolic process  RNA splicing  cytoplasmic stress granule  miRNA metabolic process  negative regulation of low-density lipoprotein particle clearance  membrane  mRNA 3'-UTR AU-rich region binding  regulation of mRNA stability  regulation of mRNA stability  negative regulation of nitric oxide biosynthetic process  mRNA transport  positive regulation of mRNA catabolic process  3'-UTR-mediated mRNA destabilization  cellular response to cytokine stimulus  regulation of miRNA metabolic process  
Ontology : EGO-EBIexosome (RNase complex)  RNA splicing, via transesterification reactions  DNA binding  RNA binding  protein binding  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  mRNA processing  mRNA catabolic process  RNA splicing  cytoplasmic stress granule  miRNA metabolic process  negative regulation of low-density lipoprotein particle clearance  membrane  mRNA 3'-UTR AU-rich region binding  regulation of mRNA stability  regulation of mRNA stability  negative regulation of nitric oxide biosynthetic process  mRNA transport  positive regulation of mRNA catabolic process  3'-UTR-mediated mRNA destabilization  cellular response to cytokine stimulus  regulation of miRNA metabolic process  
NDEx NetworkKHSRP
Atlas of Cancer Signalling NetworkKHSRP
Wikipedia pathwaysKHSRP
Orthology - Evolution
OrthoDB8570
GeneTree (enSembl)ENSG00000088247
Phylogenetic Trees/Animal Genes : TreeFamKHSRP
HOGENOMQ92945
Homologs : HomoloGeneKHSRP
Homology/Alignments : Family Browser (UCSC)KHSRP
Gene fusions - Rearrangements
Fusion : MitelmanKHSRP/CD70 [19p13.3/19p13.3]  
Fusion : MitelmanSAFB2/KHSRP [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion PortalKHSRP 19p13.3 CD70 19p13.3 BRCA
Fusion PortalSAFB2 19p13.3 KHSRP 19p13.3 PRAD
Fusion : QuiverKHSRP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHSRP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHSRP
dbVarKHSRP
ClinVarKHSRP
1000_GenomesKHSRP 
Exome Variant ServerKHSRP
ExAC (Exome Aggregation Consortium)ENSG00000088247
GNOMAD BrowserENSG00000088247
Varsome BrowserKHSRP
Genetic variants : HAPMAP8570
Genomic Variants (DGV)KHSRP [DGVbeta]
DECIPHERKHSRP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHSRP 
Mutations
ICGC Data PortalKHSRP 
TCGA Data PortalKHSRP 
Broad Tumor PortalKHSRP
OASIS PortalKHSRP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHSRP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHSRP
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 KHSRP
DgiDB (Drug Gene Interaction Database)KHSRP
DoCM (Curated mutations)KHSRP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHSRP (select a term)
intoGenKHSRP
Cancer3DKHSRP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603445   
Orphanet
DisGeNETKHSRP
MedgenKHSRP
Genetic Testing Registry KHSRP
NextProtQ92945 [Medical]
TSGene8570
GENETestsKHSRP
Target ValidationKHSRP
Huge Navigator KHSRP [HugePedia]
snp3D : Map Gene to Disease8570
BioCentury BCIQKHSRP
ClinGenKHSRP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8570
Chemical/Pharm GKB GenePA30097
Clinical trialKHSRP
Miscellaneous
canSAR (ICR)KHSRP (select the gene name)
Probes
Litterature
PubMed106 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHSRP
EVEXKHSRP
GoPubMedKHSRP
iHOPKHSRP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Dec 21 15:28:03 CET 2018
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