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ETV1 Gene

protein-coding   GIFtS: 65
GCID: GC07M013897

Ets Variant 1

(Previous name: ets variant gene 1)
  See ETV1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ets Variant 11 2
Ets Variant Gene 11 2
Ets-Related Protein 812 3
ER812 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ETV1 Gene:
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)

GeneCards Summary for ETV1 Gene:
ETV1 (ets variant 1) is a protein-coding gene. Diseases associated with ETV1 include peripheral primitive neuroectodermal tumor, and gastrointestinal stromal tumor. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ETV3.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for ETV1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549 (See protein sequence)
Recommended Name: ETS translocation variant 1  
Size: 477 amino acids; 55131 Da
Sequence caution: Sequence=BAD92439.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for ETV1:
4AVP (3D)        4BNC (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

Explore proteomics data for ETV1 at MOPED

Post-translational modifications: 

  • Sumoylated1
  • Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ETV1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    ETV1 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for ETV1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000418 Ets_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR006715 ETS_PEA3_N

    Graphical View of Domain Structure for InterPro Entry P50549

    ProtoNet protein and cluster: P50549

    1 Blocks protein domain: 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


    Find genes that share domains with ETV1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7700648
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with ETV1           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Etv1):
     behavior/neurological  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  normal 

    Find genes that share phenotypes with ETV1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ETV1: Etv1tm1.1Wds Etv1tm1Tmj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ETV1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ETV1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ETV1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  AACCGGAAGT 

    miRNA
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    miRTarBase miRNAs that target ETV1:
    hsa-mir-335-5p (MIRT017630)

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    Selected qRT-PCR 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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ETV1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 7): ETV1 (NM_004956)
    Sino Biological Human cDNA Clone for ETV1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETV1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETV1

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    eBioscience FlowRNA Probe Sets ( VA1-11790) for ETV1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ETV1_HUMAN, P50549: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with ETV1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ETV1 About    
    See pathways by source

    SuperPathContained pathways About
    1Akt Signaling
    p38 Signaling0.60
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    3p38 signaling mediated by MAPKAP kinases
    p38 signaling mediated by MAPKAP kinases
    4Development TGF beta receptor signaling
    Development TGF beta receptor signaling


    Find genes that share SuperPaths with ETV1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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



    1 Kegg Pathway  (Kegg details for ETV1):
        Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including ETV1: 
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ETV1

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

    Selected 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): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter IBA--
    GO:0006366transcription from RNA polymerase II promoter TAS7700648
    GO:0007411axon guidance IEA--
    GO:0007517muscle organ development IEA--

    Find genes that share ontologies with ETV1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ETV1

    3 Novoseek inferred 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)



    Find genes that share compounds with ETV1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
    miRNA
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    Selected qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector (see all 7): ETV1 (NM_004956)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETV1
    Primer
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    Flow Cytometry
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 127):

    AW274929 AF070641 AI801685 AI291719 BE671608 AI637775 BU624617 BF110168 
    AI918670 BX096086 AI870855 AI589102 BF593408 AA593775 BF222787 AI655920 
    BM698730 NM_004956 AI537939 AA486926 BQ894857 BG779436 BX282221 BU681598 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ETV1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAACGTTAT
    ETV1 Expression
    About this image


    ETV1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Heart (Cardiovascular System)
             Cushion Mesenchymal Cells Endocardium
     
     Testis (Reproductive System)
             XY Germ Cells Testis Cord
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
    ETV1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ETV1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ETV1: 
              Prostate Cancer in human mouse rat

    Primer
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ETV1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Etv11 , 5 ets variant gene 11, 5 93.71(n)1
    97.9(a)1
      12 (17.99 cM)5
    140091  NM_007960.41  NP_031986.11 
     387793805 
    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
    ets variant 1
    94(a)
    1 ↔ 1
    6(26369115-26454919)
    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   --


    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)
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    Paralogs for ETV1 gene
    ETV32  ERF2  ETV52  ETV3L2  ETS12  GABPA2  ETS22  ERG2  
    FEV2  ETV42  ETV22  FLI12  
    10 SIMAP similar genes for ETV1 using alignment to 8 protein entries:     ETV1_HUMAN (see all proteins):
    ELK3    ETV5    ERF    TLS-ERG    ELF2    DDX5-ETV4 fusion
    FEV    ETV2    ETV4    ELF5

    Find genes that share paralogs with ETV1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ETV1 (see all 2527)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105544411,2
    C--13900216(+) TGCAA-/ACACACA 7 -- int11Minor allele frequency- AC:0.00NA 2
    rs2000660231,2
    C--13900217(+) GCAAAA/CACACA 7 -- int10--------
    rs1894246041,2
    --13905284(+) GACCAC/TGACAT 7 -- ds50010--------
    rs1807047071,2
    --13905354(+) AGCAAC/TTTGGA 7 -- ds50010--------
    rs1145412451,2
    C,F--13905555(+) AAAAGA/GATAAT 7 -- ds50011Minor allele frequency- G:0.02WA 118
    rs1415349851,2
    --13905624(+) TGACAC/TGATGA 7 -- ds50010--------
    rs1462124411,2
    --13905828(+) CAAGTA/GAATTA 7 -- ut310--------
    rs1849276191,2
    --13906012(+) ACTTAA/GTCTAA 7 -- ut310--------
    rs97850001,2
    C,F,A,H--13906038(+) AAACTA/GTACTT 7 -- ut3127Minor allele frequency- N:0.00EA NA NS WA CSA 2559
    rs119831571,2
    C,H--13906091(+) ATGTAT/CATAAA 7 -- ut31 ese33Minor allele frequency- C:0.04WA NA 240

    HapMap Linkage Disequilibrium report for ETV1 (13930853 - 14031050 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ETV1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5642CNV Insertion18451855
    dgv7205n71CNV Loss21882294
    nsv821652CNV Loss15273396
    nsv887700CNV Loss21882294
    nsv887698CNV Gain21882294
    nsv887701CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing ETV1:
    Ovarian Cancer
    Search QIAGEN SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 600541    OMIM disorders: --

    UniProtKB/Swiss-Prot: ETV1_HUMAN, P50549
  • 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=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration
    involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1

  • 3 diseases for ETV1:    
    About MalaCards
    peripheral primitive neuroectodermal tumor    gastrointestinal stromal tumor    prostate cancer

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

    Find genes that share disorders with ETV1           About GenesLikeMe

    7 Novoseek inferred 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)

    Genetic Association Database (GAD): ETV1
    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)
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    PubMed articles for ETV1 gene, integrated from 10 sources (see all 108):
    (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. (Oncogene 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. (J. Biol. Chem. 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. (Oncogene 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. (Oncogene 1995)
    5. Utility of incorporating genetic variants for the early detection of prostate cancer. (PubMed id 19223501)1, 4 Nam R.K....Narod S.A. (Clin. Cancer Res. 2009)
    6. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (J. Biol. Chem. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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. (Genome Res. 2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2115 HGNC: 3490 AceView: ETV1 Ensembl:ENSG00000006468 euGenes: HUgn2115
    ECgene: ETV1 Kegg: 2115 H-InvDB: ETV1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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