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ESRP1 (epithelial splicing regulatory protein 1)

Identity

Alias_namesRBM35A
RNA binding motif protein 35A
Alias_symbol (synonym)FLJ20171
Other aliasRMB35A
HGNC (Hugo) ESRP1
LocusID (NCBI) 54845
Atlas_Id 50792
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 95653364 and ends at 95719694 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ESRP1 (8q22.1) / ESRP1 (8q22.1)ESRP1 (8q22.1) / MKRN2 (3p25.2)ESRP1 (8q22.1) / RAF1 (3p25.2)
GNS (12q14.3) / ESRP1 (8q22.1)PGD (1p36.22) / ESRP1 (8q22.1)RAF1 (3p25.2) / ESRP1 (8q22.1)
RMDN1 (8q21.3) / ESRP1 (8q22.1)ESRP1 8q22.1 / RAF1 3p25.2RAF1 3p25.2 / ESRP1 8q22.1
FAM82B ESRP1 8q22.1

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 ]
  Prostate tumors: an overview


External links

Nomenclature
HGNC (Hugo)ESRP1   25966
Cards
Entrez_Gene (NCBI)ESRP1  54845  epithelial splicing regulatory protein 1
AliasesRBM35A; RMB35A
GeneCards (Weizmann)ESRP1
Ensembl hg19 (Hinxton)ENSG00000104413 [Gene_View]  chr8:95653364-95719694 [Contig_View]  ESRP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104413 [Gene_View]  chr8:95653364-95719694 [Contig_View]  ESRP1 [Vega]
ICGC DataPortalENSG00000104413
TCGA cBioPortalESRP1
AceView (NCBI)ESRP1
Genatlas (Paris)ESRP1
WikiGenes54845
SOURCE (Princeton)ESRP1
Genetics Home Reference (NIH)ESRP1
Genomic and cartography
GoldenPath hg19 (UCSC)ESRP1  -     chr8:95653364-95719694 +  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESRP1  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblESRP1 - 8q22.1 [CytoView hg19]  ESRP1 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBIESRP1 [Mapview hg19]  ESRP1 [Mapview hg38]
OMIM612959   
Gene and transcription
Genbank (Entrez)AI990751 AK000178 AK001805 BC019932 BC035406
RefSeq transcript (Entrez)NM_001034915 NM_001122825 NM_001122826 NM_001122827 NM_017697
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)ESRP1
Cluster EST : UnigeneHs.487471 [ NCBI ]
CGAP (NCI)Hs.487471
Alternative Splicing GalleryENSG00000104413
Gene ExpressionESRP1 [ NCBI-GEO ]   ESRP1 [ EBI - ARRAY_EXPRESS ]   ESRP1 [ SEEK ]   ESRP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESRP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54845
GTEX Portal (Tissue expression)ESRP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6NXG1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6NXG1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6NXG1
Splice isoforms : SwissVarQ6NXG1
PhosPhoSitePlusQ6NXG1
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RNaseH-like_dom    RRM_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)ESRP1
DMDM Disease mutations54845
Blocks (Seattle)ESRP1
PDB (SRS)2DHA    2RVJ   
PDB (PDBSum)2DHA    2RVJ   
PDB (IMB)2DHA    2RVJ   
PDB (RSDB)2DHA    2RVJ   
Structural Biology KnowledgeBase2DHA    2RVJ   
SCOP (Structural Classification of Proteins)2DHA    2RVJ   
CATH (Classification of proteins structures)2DHA    2RVJ   
SuperfamilyQ6NXG1
Human Protein AtlasENSG00000104413
Peptide AtlasQ6NXG1
HPRD07881
IPIIPI00797684   IPI00789651   IPI00184262   IPI00654821   IPI00889667   IPI00889741   IPI00981964   IPI00981412   
Protein Interaction databases
DIP (DOE-UCLA)Q6NXG1
IntAct (EBI)Q6NXG1
FunCoupENSG00000104413
BioGRIDESRP1
STRING (EMBL)ESRP1
ZODIACESRP1
Ontologies - Pathways
QuickGOQ6NXG1
Ontology : AmiGOnucleotide binding  mRNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  mRNA processing  RNA splicing  fibroblast growth factor receptor signaling pathway  regulation of RNA splicing  
Ontology : EGO-EBInucleotide binding  mRNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  mRNA processing  RNA splicing  fibroblast growth factor receptor signaling pathway  regulation of RNA splicing  
NDEx NetworkESRP1
Atlas of Cancer Signalling NetworkESRP1
Wikipedia pathwaysESRP1
Orthology - Evolution
OrthoDB54845
GeneTree (enSembl)ENSG00000104413
Phylogenetic Trees/Animal Genes : TreeFamESRP1
HOVERGENQ6NXG1
HOGENOMQ6NXG1
Homologs : HomoloGeneESRP1
Homology/Alignments : Family Browser (UCSC)ESRP1
Gene fusions - Rearrangements
Fusion : MitelmanESRP1/RAF1 [8q22.1/3p25.2]  
Fusion : MitelmanRMDN1/ESRP1 [8q21.3/8q22.1]  [t(8;8)(q21;q22)]  
Fusion: TCGAFAM82B ESRP1 8q22.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESRP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESRP1
dbVarESRP1
ClinVarESRP1
1000_GenomesESRP1 
Exome Variant ServerESRP1
ExAC (Exome Aggregation Consortium)ESRP1 (select the gene name)
Genetic variants : HAPMAP54845
Genomic Variants (DGV)ESRP1 [DGVbeta]
DECIPHER (Syndromes)8:95653364-95719694  ENSG00000104413
CONAN: Copy Number AnalysisESRP1 
Mutations
ICGC Data PortalESRP1 
TCGA Data PortalESRP1 
Broad Tumor PortalESRP1
OASIS PortalESRP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESRP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESRP1
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 ESRP1
DgiDB (Drug Gene Interaction Database)ESRP1
DoCM (Curated mutations)ESRP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESRP1 (select a term)
intoGenESRP1
Cancer3DESRP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612959   
Orphanet
MedgenESRP1
Genetic Testing Registry ESRP1
NextProtQ6NXG1 [Medical]
TSGene54845
GENETestsESRP1
Huge Navigator ESRP1 [HugePedia]
snp3D : Map Gene to Disease54845
BioCentury BCIQESRP1
ClinGenESRP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54845
Chemical/Pharm GKB GenePA164719324
Clinical trialESRP1
Miscellaneous
canSAR (ICR)ESRP1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESRP1
EVEXESRP1
GoPubMedESRP1
iHOPESRP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:05:02 CET 2017

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