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ETV5 (ETS variant 5)

Identity

Alias_namesets variant gene 5 (ets-related molecule)
Alias_symbol (synonym)ERM
Other alias
HGNC (Hugo) ETV5
LocusID (NCBI) 2119
Atlas_Id 40505
Location 3q27.2  [Link to chromosome band 3q27]
Location_base_pair Starts at 186046317 and ends at 186109112 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACTN4 (19q13.2) / ETV5 (3q27.2)EPG5 (18q12.3) / ETV5 (3q27.2)ETV5 (3q27.2) / LOC284889 ()
ETV5 (3q27.2) / SCL45A3 ()ETV5 (3q27.2) / TMPRSS2 (21q22.3)RNF213 (17q25.3) / ETV5 (3q27.2)
SLC45A3 (1q32.1) / ETV5 (3q27.2)TMPRSS2 (21q22.3) / ETV5 (3q27.2)SLC45A3 1q32.1 / ETV5 3q27.2
TMPRSS2 21q22.3 / ETV5 3q27.2RNF213 17q25.3 / ETV5 3q27.2

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

 

Breakpoints

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prostate tumors: an overview


External links

Nomenclature
HGNC (Hugo)ETV5   3494
Cards
Entrez_Gene (NCBI)ETV5  2119  ETS variant 5
AliasesERM
GeneCards (Weizmann)ETV5
Ensembl hg19 (Hinxton)ENSG00000244405 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244405 [Gene_View]  chr3:186046317-186109112 [Contig_View]  ETV5 [Vega]
ICGC DataPortalENSG00000244405
TCGA cBioPortalETV5
AceView (NCBI)ETV5
Genatlas (Paris)ETV5
WikiGenes2119
SOURCE (Princeton)ETV5
Genetics Home Reference (NIH)ETV5
Genomic and cartography
GoldenPath hg38 (UCSC)ETV5  -     chr3:186046317-186109112 -  3q27.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETV5  -     3q27.2   [Description]    (hg19-Feb_2009)
EnsemblETV5 - 3q27.2 [CytoView hg19]  ETV5 - 3q27.2 [CytoView hg38]
Mapping of homologs : NCBIETV5 [Mapview hg19]  ETV5 [Mapview hg38]
OMIM601600   
Gene and transcription
Genbank (Entrez)AK301878 BC007333 BT006713 CR456767 DQ890674
RefSeq transcript (Entrez)NM_004454
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ETV5
Cluster EST : UnigeneHs.43697 [ NCBI ]
CGAP (NCI)Hs.43697
Alternative Splicing GalleryENSG00000244405
Gene ExpressionETV5 [ NCBI-GEO ]   ETV5 [ EBI - ARRAY_EXPRESS ]   ETV5 [ SEEK ]   ETV5 [ MEM ]
Gene Expression Viewer (FireBrowse)ETV5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2119
GTEX Portal (Tissue expression)ETV5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41161   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41161  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41161
Splice isoforms : SwissVarP41161
PhosPhoSitePlusP41161
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_1 (PS00345)    ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)   
Domains : Interpro (EBI)Ets_dom    ETS_PEA3_N    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)Ets (PF00178)    ETS_PEA3_N (PF04621)   
Domain families : Pfam (NCBI)pfam00178    pfam04621   
Domain families : Smart (EMBL)ETS (SM00413)  
Conserved Domain (NCBI)ETV5
DMDM Disease mutations2119
Blocks (Seattle)ETV5
PDB (SRS)4UNO   
PDB (PDBSum)4UNO   
PDB (IMB)4UNO   
PDB (RSDB)4UNO   
Structural Biology KnowledgeBase4UNO   
SCOP (Structural Classification of Proteins)4UNO   
CATH (Classification of proteins structures)4UNO   
SuperfamilyP41161
Human Protein AtlasENSG00000244405
Peptide AtlasP41161
HPRD09035
IPIIPI01010250   IPI00796972   IPI00926060   IPI00925840   IPI00925590   IPI00924930   IPI00924701   
Protein Interaction databases
DIP (DOE-UCLA)P41161
IntAct (EBI)P41161
FunCoupENSG00000244405
BioGRIDETV5
STRING (EMBL)ETV5
ZODIACETV5
Ontologies - Pathways
QuickGOP41161
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  plasma membrane  transcription from RNA polymerase II promoter  neuromuscular synaptic transmission  locomotory behavior  cell differentiation  cellular response to oxidative stress  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  male germ-line stem cell asymmetric division  regulation of synapse organization  positive regulation of glial cell proliferation  regulation of branching involved in mammary gland duct morphogenesis  skeletal muscle acetylcholine-gated channel clustering  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  DNA binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  plasma membrane  transcription from RNA polymerase II promoter  neuromuscular synaptic transmission  locomotory behavior  cell differentiation  cellular response to oxidative stress  transcription regulatory region DNA binding  positive regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  male germ-line stem cell asymmetric division  regulation of synapse organization  positive regulation of glial cell proliferation  regulation of branching involved in mammary gland duct morphogenesis  skeletal muscle acetylcholine-gated channel clustering  
Pathways : BIOCARTAIL12 and Stat4 Dependent Signaling Pathway in Th1 Development [Genes]   
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkETV5
Atlas of Cancer Signalling NetworkETV5
Wikipedia pathwaysETV5
Orthology - Evolution
OrthoDB2119
GeneTree (enSembl)ENSG00000244405
Phylogenetic Trees/Animal Genes : TreeFamETV5
HOVERGENP41161
HOGENOMP41161
Homologs : HomoloGeneETV5
Homology/Alignments : Family Browser (UCSC)ETV5
Gene fusions - Rearrangements
Fusion : MitelmanRNF213/ETV5 [17q25.3/3q27.2]  [t(3;17)(q27;q25)]  
Fusion : MitelmanSLC45A3/ETV5 [1q32.1/3q27.2]  [t(1;3)(q32;q27)]  
Fusion : MitelmanTMPRSS2/ETV5 [21q22.3/3q27.2]  [t(3;21)(q27;q22)]  
Fusion: TCGARNF213 17q25.3 ETV5 3q27.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETV5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETV5
dbVarETV5
ClinVarETV5
1000_GenomesETV5 
Exome Variant ServerETV5
ExAC (Exome Aggregation Consortium)ETV5 (select the gene name)
Genetic variants : HAPMAP2119
Genomic Variants (DGV)ETV5 [DGVbeta]
DECIPHERETV5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETV5 
Mutations
ICGC Data PortalETV5 
TCGA Data PortalETV5 
Broad Tumor PortalETV5
OASIS PortalETV5 [ Somatic mutations - Copy number]
Cancer Gene: CensusETV5 
Somatic Mutations in Cancer : COSMICETV5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDETV5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ETV5
DgiDB (Drug Gene Interaction Database)ETV5
DoCM (Curated mutations)ETV5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETV5 (select a term)
intoGenETV5
Cancer3DETV5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601600   
Orphanet
MedgenETV5
Genetic Testing Registry ETV5
NextProtP41161 [Medical]
TSGene2119
GENETestsETV5
Target ValidationETV5
Huge Navigator ETV5 [HugePedia]
snp3D : Map Gene to Disease2119
BioCentury BCIQETV5
ClinGenETV5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2119
Chemical/Pharm GKB GenePA27908
Clinical trialETV5
Miscellaneous
canSAR (ICR)ETV5 (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETV5
EVEXETV5
GoPubMedETV5
iHOPETV5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 25 19:07:22 CEST 2017

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