Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ETV7 (ETS variant transcription factor 7)

Identity

Alias (NCBI)TEL-2
TEL2
TELB
HGNC (Hugo) ETV7
HGNC Alias symbTEL2
TEL-2
HGNC Alias nameTEL2 oncogene
HGNC Previous nameets variant gene 7 (TEL2 oncogene)
 ETS variant 7
LocusID (NCBI) 51513
Atlas_Id 40506
Location 6p21.31  [Link to chromosome band 6p21]
Location_base_pair Starts at 36366194 and ends at 36387669 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)
KCTD20 (6p21.31) / ETV7 (6p21.31)KCTD20 6p21.31 / ETV7 6p21.31

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  dic(9;12)(p13;p13) PAX5/ETV6
t(6;17)(p21;p13)

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  KCTD20/ETV7 (6p21)

External links

Nomenclature
HGNC (Hugo)ETV7   18160
Cards
Entrez_Gene (NCBI)ETV7  51513  ETS variant transcription factor 7
AliasesTEL-2; TEL2; TELB
GeneCards (Weizmann)ETV7
Ensembl hg19 (Hinxton)ENSG00000010030 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000010030 [Gene_View]  ENSG00000010030 [Sequence]  chr6:36366194-36387669 [Contig_View]  ETV7 [Vega]
ICGC DataPortalENSG00000010030
TCGA cBioPortalETV7
AceView (NCBI)ETV7
Genatlas (Paris)ETV7
WikiGenes51513
SOURCE (Princeton)ETV7
Genetics Home Reference (NIH)ETV7
Genomic and cartography
GoldenPath hg38 (UCSC)ETV7  -     chr6:36366194-36387669 -  6p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETV7  -     6p21.31   [Description]    (hg19-Feb_2009)
GoldenPathETV7 - 6p21.31 [CytoView hg19]  ETV7 - 6p21.31 [CytoView hg38]
ImmunoBaseENSG00000010030
genome Data Viewer NCBIETV7 [Mapview hg19]  
OMIM605255   
Gene and transcription
Genbank (Entrez)AF116508 AF116509 AF116510 AF147782 AF175387
RefSeq transcript (Entrez)NM_001207035 NM_001207036 NM_001207037 NM_001207038 NM_001207039 NM_001207040 NM_001207041 NM_016135
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ETV7
Alternative Splicing GalleryENSG00000010030
Gene ExpressionETV7 [ NCBI-GEO ]   ETV7 [ EBI - ARRAY_EXPRESS ]   ETV7 [ SEEK ]   ETV7 [ MEM ]
Gene Expression Viewer (FireBrowse)ETV7 [ Firebrowse - Broad ]
GenevisibleExpression of ETV7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51513
GTEX Portal (Tissue expression)ETV7
Human Protein AtlasENSG00000010030-ETV7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y603   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y603  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y603
Splice isoforms : SwissVarQ9Y603
PhosPhoSitePlusQ9Y603
Domaine pattern : Prosite (Expaxy)ETS_DOMAIN_2 (PS00346)    ETS_DOMAIN_3 (PS50061)    PNT (PS51433)   
Domains : Interpro (EBI)Ets_dom    Pointed_dom    SAM/pointed_sf    WH-like_DNA-bd_sf    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)Ets (PF00178)    SAM_PNT (PF02198)   
Domain families : Pfam (NCBI)pfam00178    pfam02198   
Domain families : Smart (EMBL)ETS (SM00413)  SAM_PNT (SM00251)  
Conserved Domain (NCBI)ETV7
DMDM Disease mutations51513
Blocks (Seattle)ETV7
SuperfamilyQ9Y603
Human Protein Atlas [tissue]ENSG00000010030-ETV7 [tissue]
Peptide AtlasQ9Y603
HPRD16095
IPIIPI00001714   IPI00221263   IPI00221264   IPI00221265   IPI00221266   IPI00221267   IPI00221268   IPI01015183   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y603
IntAct (EBI)Q9Y603
FunCoupENSG00000010030
BioGRIDETV7
STRING (EMBL)ETV7
ZODIACETV7
Ontologies - Pathways
QuickGOQ9Y603
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  animal organ morphogenesis  cell differentiation  host cell nucleus  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  animal organ morphogenesis  cell differentiation  host cell nucleus  
Pathways : KEGGDorso-ventral axis formation    Transcriptional misregulation in cancer   
NDEx NetworkETV7
Atlas of Cancer Signalling NetworkETV7
Wikipedia pathwaysETV7
Orthology - Evolution
OrthoDB51513
GeneTree (enSembl)ENSG00000010030
Phylogenetic Trees/Animal Genes : TreeFamETV7
HOGENOMQ9Y603
Homologs : HomoloGeneETV7
Homology/Alignments : Family Browser (UCSC)ETV7
Gene fusions - Rearrangements
Fusion : MitelmanKCTD20/ETV7 [6p21.31/6p21.31]  
Fusion PortalKCTD20 6p21.31 ETV7 6p21.31 BLCA
Fusion : QuiverETV7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETV7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETV7
dbVarETV7
ClinVarETV7
MonarchETV7
1000_GenomesETV7 
Exome Variant ServerETV7
GNOMAD BrowserENSG00000010030
Varsome BrowserETV7
Genetic variants : HAPMAP51513
Genomic Variants (DGV)ETV7 [DGVbeta]
DECIPHERETV7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETV7 
Mutations
ICGC Data PortalETV7 
TCGA Data PortalETV7 
Broad Tumor PortalETV7
OASIS PortalETV7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICETV7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DETV7
Mutations and Diseases : HGMDETV7
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 ETV7
DgiDB (Drug Gene Interaction Database)ETV7
DoCM (Curated mutations)ETV7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETV7 (select a term)
intoGenETV7
Cancer3DETV7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605255   
Orphanet
DisGeNETETV7
MedgenETV7
Genetic Testing Registry ETV7
NextProtQ9Y603 [Medical]
TSGene51513
GENETestsETV7
Target ValidationETV7
Huge Navigator ETV7 [HugePedia]
snp3D : Map Gene to Disease51513
BioCentury BCIQETV7
ClinGenETV7
Clinical trials, drugs, therapy
Protein Interactions : CTD51513
Pharm GKB GenePA134980006
Clinical trialETV7
Miscellaneous
canSAR (ICR)ETV7 (select the gene name)
HarmonizomeETV7
DataMed IndexETV7
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETV7
EVEXETV7
GoPubMedETV7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:10:33 CEST 2020
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