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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ETV1 Gene

protein-coding   GIFtS: 60
GCID: GC07M013897

ets variant 1

(Previous name: ets variant gene 1 )
 Explore 18 diseases affiliated with
ETV1 via our new
 Human Malady Compendium 
Biological research products
for ETV1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ets Variant 11 2
ER811 2 3
Ets Variant Gene 11 2
Ets-Related Protein 812 3
ETS Translocation Variant 12

External Ids:    HGNC: 34901   Entrez Gene: 21152   Ensembl: ENSG000000064687   OMIM: 6005415   UniProtKB: P505493   

Export aliases for ETV1 gene to outside databases

Previous GC identifers: GC07M013579 GC07M013679 GC07M013708 GC07M013813


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ETV1:
This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many
target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and
differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the
consensus 5'-CGGA(AT)-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain
(TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is
involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma
and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal
rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple
alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Aug
2011)

UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
Function: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'

Gene Wiki entry for ETV1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ETV1 gene promoter:
         TBP   E2F-4   E2F-3a   E2F-5   HTF   FOXD3   E2F-2   SRY   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): ETV1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ETV1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ETV1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.2   HGNC cytogenetic band: 7p22

ETV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETV1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M013897:  view genomic region     (about GC identifiers)

Start:
13,930,853 bp from pter      End:
14,031,050 bp from pter
Size:
100,198 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 13,981,766-14,081,945     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549 (See protein sequence)
Recommended Name: ETS translocation variant 1  
Size: 477 amino acids; 55131 Da
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAD92439.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for ETV1:
4AVP (3D)        4B06 (3D)    
Secondary accessions: A4D118 B2R768 B7Z2I4 B7Z618 B7Z9P2 C9JT37 E9PHB1 F5GXR2 O75849 Q4KMQ6 Q59GA7
Q6AI30 Q9UQ71 Q9Y636
Alternative splicing: 6 isoforms:  P50549-1   P50549-2   P50549-3   P50549-4   P50549-5   P50549-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ETV1: NX_P50549

Post-translational modifications:

  • Sumoylated1
  • Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50549

  • ETV1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (7 alternative transcripts): 
    NP_001156619.1  NP_001156620.1  NP_001156621.1  NP_001156622.1  NP_001156623.1  NP_001156624.1  NP_004947.2  

    ENSEMBL proteins: 
     ENSP00000405327   ENSP00000385381   ENSP00000384085   ENSP00000384138   ENSP00000385551  
     ENSP00000413836   ENSP00000385686   ENSP00000393078   ENSP00000394710   ENSP00000391043  
     ENSP00000410819   ENSP00000406931   ENSP00000242066   ENSP00000340853   ENSP00000411626  
     ENSP00000382293  

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    Novus Biologicals ETV1 Protein
    Novus Biologicals ETV1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ETV1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    ETV1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ETV1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ETV1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000418 Ets_dom
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR006715 ETS_PEA3_N

    Graphical View of Domain Structure for InterPro Entry P50549

    ProtoNet protein and cluster: P50549

    1 Blocks protein family: IPB006715 PEA3-type ETS-domain transcription factor

    UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
    Similarity: Belongs to the ETS family
    Similarity: Contains 1 ETS DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
    Function: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'

         Genatlas biochemistry entry for ETV1:
    ETS variant 1,transcription factor of the ETS family,divergent member of the winged helix-turn-helix superfamily,fused
    with EWS in translocation t(7;22)(p22;q12)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding IEA--


    ETV1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ETV1: Etv1tm1.1Wds Etv1tm1Tmj
         6 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Etv1):
     behavior/neurological  growth/size  mortality/aging  muscle  nervous system 
     normal 

    ETV1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_TGF-beta receptor signaling
    Development_TGF-beta receptor signaling1.00
    Development TGF-beta receptor signaling0.96
    2p38 signaling mediated by MAPKAP kinases
    p38 signaling mediated by MAPKAP kinases1.00
    3Akt Signaling
    p38 Signaling0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ETV1
        Development TGF-beta receptor signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ETV1
        p38 Signaling

    1 GeneGo (Thomson Reuters) Pathway for ETV1
        Development TGF-beta receptor signaling

    1 BioSystems Pathway for ETV1 
        p38 signaling mediated by MAPKAP kinases



    ETV1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ETV1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for ETV1 (P505491, 3 ENSP000003840854) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPKAPK2P491373, ENSP000003560704I2D: score=2 STRING: ENSP00000356070
    KCNA2P163893, ENSP000003145204I2D: score=1 STRING: ENSP00000314520
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    MAPK8P459833, ENSP000003534834I2D: score=1 STRING: ENSP00000353483
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS7700648
    GO:0007411axon guidance IEA--
    GO:0007517muscle organ development IEA--
    GO:0007638mechanosensory behavior IEA--


    ETV1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ETV1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ETV1
    3 Novoseek chemical compound relationships for ETV1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 19.5 40 17505060 (7), 19789348 (2), 17634427 (1)
    tyrosine 7.96 1 14747462 (1)
    serine 1.82 6 12569367 (1), 11551945 (1), 17259299 (1)

    Search CenterWatch for drugs/clinical trials and news about ETV1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ETV1 gene (7 alternative transcripts): 
    NM_001163147.1  NM_001163148.1  NM_001163149.1  NM_001163150.1  NM_001163151.1  NM_001163152.1  NM_004956.4  

    Unigene Cluster for ETV1:

    Ets variant 1
    Hs.22634  [show with all ESTs]
    Unigene Representative Sequence: NM_004956
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000430479(uc021zzz.1 uc022aaa.1 uc003ssx.3 uc022aac.1)
    ENST00000405192 ENST00000405358 ENST00000403527 ENST00000405218 ENST00000443137
    ENST00000403685 ENST00000493831 ENST00000472931(uc010ktv.3) ENST00000438956
    ENST00000476720 ENST00000443608 ENST00000497115 ENST00000476355 ENST00000421381
    ENST00000431887 ENST00000460438 ENST00000483075

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    8/160 QIAGEN miScript miRNA Assays for microRNAs that regulate ETV1 (see all 160):
    hsa-miR-579 hsa-miR-193a-3p hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-miR-138-2* hsa-miR-519a hsa-miR-298
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    Additional cDNA sequence: 

    AB209202.1 AF070641.1 AJ012492.1 AK055368.1 AK293802.1 AK294572.1 AK294755.1 AK299693.1 
    AK309190.1 AK311089.1 AK311134.1 AK311194.1 AK311707.1 AK312863.1 AK316007.1 BC042950.2 
    BC045776.1 BC098403.1 BC106762.1 BC106763.1 CR627389.1 EF632110.1 U17163.1 X87175.1 

    12 DOTS entries:

    DT.100718526  DT.209406  DT.101979255  DT.121042940  DT.121042939  DT.121042925  DT.40129275  DT.65285559 
    DT.95117185  DT.100680153  DT.121042928  DT.121042952 

    24/127 AceView cDNA sequences (see all 127):

    BX096086 AW274929 BF110168 AI918670 BE671608 BF222787 AA486926 AI589102 
    AI637775 BU624617 AI291719 AA593775 NM_004956 AI801685 BG779436 BQ894857 
    BX282221 AI655920 AL120951 AF070641 BU681598 AI537939 BF593408 BM698730 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ETV1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b
    SP1:                                                        -                       -                                                           -               
    SP2:                                -     -                 -                       -                             -                             -               
    SP3:                                                        -                 -     -                                                           -               
    SP4:        -     -     -     -                             -                       -                                                                           
    SP5:                                                        -                                                                                                   


    ECgene alternative splicing isoforms for ETV1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ETV1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTAACGTTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ETV1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETV1

    SOURCE GeneReport for Unigene cluster: Hs.22634

    UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
    Tissue specificity: Very highly expressed in brain, highly expressed in testis, lung and heart, moderately in spleen,
    small intestine, pancreas and colon, weakly in liver, prostate and thymus, very weakly in skeletal muscle, kidney and
    ovary and not in placenta and peripheral blood leukocytes

        SABiosciences Expression via Pathway-Focused PCR Array including ETV1: 
              Prostate Cancer in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ETV1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ETV11 ets variant 1 87.91(n)
    94.97(a)
      395748  NM_204917.1  NP_990248.1 
    lizard
    (Anolis carolinensis)
    Reptilia ETV16
    --
    93(a)
    1 ↔ 1
    6(26369115-26413090)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.16652 Xenopus laevis Ets transcription factor (XER81) mRNA, more 84.85(n)    AF107662.1 
    zebrafish
    (Danio rerio)
    Actinopterygii etv11 ets variant gene 1 72.27(n)
    74.22(a)
      563876  NM_001030182.1  NP_001025353.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ets96B3 transcription factor 87(a)   96A22   --
    worm
    (Caenorhabditis elegans)
    Secernentea elk-26
    ets-86
    (see all 4)
    Protein ETS-8
    (see all 4)
    4(a)
    19(a)
    (see all 4)
    1 ↔ many
    possible ortholog
    (see all 4)
    X(106971-109378)
    IV(1159637-1161545)


    ENSEMBL Gene Tree for ETV1 (if available)
    TreeFam Gene Tree for ETV1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ETV1 gene
    ELK42  ETV32  ERF2  ETV52  ETV3L2  ETS12  GABPA2  ETS22  
    ERG2  FEV2  ELK12  ETV42  ETV22  FLI12  ELK32  
    10 SIMAP similar genes for ETV1 using alignment to 8 protein entries:     ETV1_HUMAN (see all proteins):
    ELK3    ETV5    TLS-ERG    ETV2    ELF2    DDX5-ETV4 fusion
    FEV    ETV4    FLI1    ELF5

    ETV1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2125 NCBI SNPs in ETV1 are shown (see all 2125    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs732748941,2
    C,--13853044(+) AAAGTA/GCAGAA 7 -- int12Minor allele frequency- G:0.11WA 120
    rs2000660231,2
    C--13900217(+) GCAAAA/CACACA 7 -- int10--------
    rs1894246041,2
    --13930428(+) GACCAC/TGACAT 7 -- ds50010--------
    rs1807047071,2
    --13930498(+) AGCAAC/TTTGGA 7 -- ds50010--------
    rs1415349851,2
    --13930768(+) TGACAC/TGATGA 7 -- ds50010--------
    rs1462124411,2
    --13930972(+) CAAGTA/GAATTA 7 -- ut310--------
    rs1849276191,2
    --13931156(+) ACTTAA/GTCTAA 7 -- ut310--------
    rs97850001,2
    C,F,A,H,--13931182(+) AAACTA/GTACTT 7 -- ut3127Minor allele frequency- N:0.00EA NA NS WA CSA 2559
    rs341039221,2
    C,--13931199(+) TTTTT-/TAAGTA 7 -- ut310--------
    rs1179326651,2
    --13931295(+) TTTTCT/CAGTAT 7 -- ut311Minor allele frequency- C:0.01NA 120

    HapMap Linkage Disequilibrium report for ETV1 (13930853 - 14031050 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ETV1
         3 CNVs: 81872 0292 94385

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing ETV1:
    Ovarian Cancer
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ETV1
    DNA2.0 Custom Variant and Variant Library Synthesis for ETV1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ETV1 for disorders           About GeneDecksing

    OMIM gene information: 600541    OMIM disorders: --

    UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
  • Defects in ETV1 are a cause of Ewing sarcoma (ES) [MIM:612219]. A highly malignant, metastatic, primitive
  • small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma
    family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They
    are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated
    form of the tumors. Note=A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma.
    Translocation t(7;22)(p22;q12) with EWSR1

    18 diseases for ETV1:    About MalaCards
    gastrointestinal stromal tumor    prostate cancer    desmoplastic small round cell tumor    prostatitis
    primitive neuroectodermal tumor    sarcoma    peripheral primitive neuroectodermal tumor    melanoma
    neuroectodermal tumors    myelodysplastic syndrome    breast cancer    prostate adenocarcinoma
    gastric cancer    prostate carcinoma    colorectal cancer    adenocarcinoma
    carcinoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for ETV1:
    Prostate cancer     Peripheral primitive neuroectodermal tumor     Sarcoma

    7 Novoseek disease relationships for ETV1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ewings sarcoma 63 5 7700648 (1), 7493135 (1), 10597226 (1)
    prostate cancer 58.8 49 17505060 (5), 16254181 (3), 18996329 (3), 17671502 (3) (see all 18)
    tumors 36.7 30 19789348 (3), 18726892 (3), 18996329 (2), 7493135 (1) (see all 13)
    mammary tumor 35.6 1 12569367 (1)
    metastasis 25.5 4 11593430 (1), 17505060 (1)
    cancer 24.9 5 19789348 (1), 15094065 (1), 19066166 (1), 8597501 (1)
    breast cancer 14.8 7 18628953 (1), 18726892 (1), 14673140 (1), 8597501 (1)

    Human Genome Epidemiology (HuGE) Navigator: ETV1 (3 documents)

    Export disorders for ETV1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ETV1 gene, integrated from 9 sources (see all 99):
    (articles sorted by number of sources associating them with ETV1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of the ets-related human transcription factor ER81. (PubMed id 7651741)1, 2, 9 Monte D....de Launoit Y. (1995)
    2. Regulation of the ETS transcription factor ER81 by the 90-kDa ribosomal S6 kinase 1 and protein kinase A. (PubMed id 12213813)1, 2, 9 Wu J. and Janknecht R. (2002)
    3. Regulation of the ER81 transcription factor and its coactivators by mitogen- and stress-activated protein kinase 1 (MSK1). (PubMed id 12569367)1, 2, 9 Janknecht R. (2003)
    4. A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. (PubMed id 7700648)1, 2, 9 Jeon I.-S.... Shapiro D.N. (1995)
    5. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. Specificities of protein-protein and protein-DNA interaction of GABP alpha and two newly defined ets-related proteins. (PubMed id 1340465)1, 3 Brown T.A. and McKnight S.L. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2115 HGNC: 3490 AceView: ETV1 Ensembl:ENSG00000006468 euGenes: HUgn2115
    ECgene: ETV1 H-InvDB: ETV1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ETV1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ETV1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ETV1 gene:
    Search GeneIP for patents involving ETV1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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