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EWSR1 Gene

protein-coding   GIFtS: 63
GCID: GC22P029663

EWS RNA-Binding Protein 1

(Previous name: Ewing sarcoma breakpoint region 1)
  See EWSR1-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
EWS RNA-Binding Protein 11 2     EWS RNA-Binding Protein Variant 62
EWS2 3 5     RNA-Binding Protein EWS2
Ewing Sarcoma Breakpoint Region 11 2     Ewing Sarcoma Breakpoint Region 1 Protein3
bK984G1.42     EWS Oncogene3
Ewings Sarcoma EWS-Fli1 (Type 1) Oncogene2     

External Ids:    HGNC: 35081   Entrez Gene: 21302   Ensembl: ENSG000001829447   OMIM: 1334505   UniProtKB: Q018443   
ORGUL members:         

Export aliases for EWSR1 gene to outside databases

Previous GC identifers: GC22P026360 GC22P027988 GC22P012628


(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 EWSR1 Gene:
This gene encodes a multifunctional protein that is involved in various cellular processes, including gene
expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional
activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various
genes encoding transcription factors result in the production of chimeric proteins that are involved in
tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of
this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this
gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal
and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related
pseudogenes have been identified on chromosomes 1 and 14. (provided by RefSeq, Jul 2009)

GeneCards Summary for EWSR1 Gene:
EWSR1 (EWS RNA-binding protein 1) is a protein-coding gene. Diseases associated with EWSR1 include peripheral primitive neuroectodermal tumor, and desmoplastic small round cell tumor. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is TAF15.

UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844
Function: Might normally function as a transcriptionnal repressor. EWS-fusion-proteins (EFPS) may play a role in
the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function
of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of
the fusion protein target genes

Gene Wiki entry for EWSR1 (Ewing sarcoma breakpoint region 1) 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_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EWSR1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEWSR1 promoter sequence
   Search Chromatin IP Primers for EWSR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EWSR1


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

EWSR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EWSR1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P029663:  view genomic region     (about GC identifiers)

Start:
29,663,998 bp from pter      End:
29,696,515 bp from pter
Size:
32,518 bases      Orientation:
plus strand

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844 (See protein sequence)
Recommended Name: RNA-binding protein EWS  
Size: 656 amino acids; 68478 Da
Subunit: Binds POLR2C, SF1, calmodulin and RNA. Interacts with PTK2B/FAK2 and TDRD3. Binds calmodulin in the
presence, but not in the absence, of calcium ion
Sequence caution: Sequence=CAA70044.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for EWSR1:
2CPE (3D)    
Secondary accessions: B0QYK1 Q5THL0 Q92635 Q96FE8 Q96MN4 Q96MX4 Q9BWA2
Alternative splicing: 6 isoforms:  Q01844-1   Q01844-2   Q01844-3   Q01844-4   Q01844-5   Q01844-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EWSR1: NX_Q01844

Explore proteomics data for EWSR1 at MOPED

Post-translational modifications: 

  • Phosphorylated; calmodulin-binding inhibits phosphorylation of Ser-2661
  • Highly methylated on arginine residues. Methylation is mediated by PRMT1 and, at lower level by PRMT81
  • Ubiquitination2 at Lys424, Lys433
  • Modification sites at PhosphoSitePlus

  • See EWSR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001156757.1  NP_001156758.1  NP_001156759.1  NP_005234.1  NP_053733.2  

    ENSEMBL proteins: 
     ENSP00000416171   ENSP00000381031   ENSP00000406824   ENSP00000405947   ENSP00000385726  
     ENSP00000412670   ENSP00000395200   ENSP00000330516   ENSP00000400142   ENSP00000327456  
     ENSP00000393637   ENSP00000331699   ENSP00000353204   ENSP00000330896  

    EWSR1 Human Recombinant Protein Products:

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    Novus Biologicals EWSR1 Protein
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    Cloud-Clone Corp. Proteins for EWSR1

     
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    antibodies-online proteins for EWSR1 (2 products) 

     
    antibodies-online peptides for EWSR1

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    antibodies-online antibodies for EWSR1 (87 products) 

    EWSR1 Assay Products:

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    antibodies-online kits for EWSR1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR001876 Znf_RanBP2
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q01844

    ProtoNet protein and cluster: Q01844

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB001876 Zn-finger


    UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844
    Domain: EWS activation domain (EAD) functions as a potent activation domain in EFPS. EWSR1 binds POLR2C but not
    POLR2E or POLR2G, whereas the isolated EAD binds POLR2E and POLR2G but not POLR2C. Cis-linked RNA-binding domain
    (RBD) can strongly and specifically repress trans-activation by the EAD
    Similarity: Belongs to the RRM TET family
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 RanBP2-type zinc finger
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with EWSR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: EWS_HUMAN, Q01844
    Function: Might normally function as a transcriptionnal repressor. EWS-fusion-proteins (EFPS) may play a role in
    the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function
    of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of
    the fusion protein target genes

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding TAS8084618
    GO:0005515protein binding IPI16189514
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with EWSR1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for EWSR1:
     Decreased nuclei size in G2M  Increased cell death HMECs cel  Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ewsr1):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  integument  mortality/aging  muscle  normal 
     renal/urinary system  reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with EWSR1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EWSR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EWSR1:
    hsa-mir-423-3p (MIRT042515), hsa-let-7c-5p (MIRT051778), hsa-mir-615-3p (MIRT040046), hsa-mir-877-3p (MIRT037136), hsa-mir-149-5p (MIRT045611), hsa-mir-196a-5p (MIRT048183), hsa-mir-328-3p (MIRT043753), hsa-mir-100-5p (MIRT048593), hsa-mir-362-5p (MIRT044051), hsa-mir-23b-3p (MIRT046333), hsa-mir-320a (MIRT044493)

    Block miRNA regulation of human, mouse, rat EWSR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EWSR1 (see all 17):
    hsa-miR-1178 hsa-miR-136 hsa-miR-875-5p hsa-miR-548k hsa-miR-340 hsa-miR-29b-1* hsa-miR-299-5p hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidEWSR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EWSR1
    Predesigned siRNA for gene silencing in human, mouse, rat EWSR1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for EWSR1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EWSR1


    (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
    EWS_HUMAN, Q01844: Nucleus. Cytoplasm. Cell membrane. Note=Relocates from cytoplasm to ribosomes upon
    PTK2B/FAK2 activation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytoskeleton2
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with EWSR1           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 EWSR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Translational Control
    Translational Control
    2Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    3Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    4BARD1 signaling events
    BARD1 signaling events


    Find genes that share SuperPaths with EWSR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for EWSR1
        Chromatin Regulation / Acetylation
    Translational Control

    1 BioSystems Pathway for EWSR1
        BARD1 signaling events


    1 Kegg Pathway  (Kegg details for EWSR1):
        Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including EWSR1: 
              Tumor Metastasis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EWSR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EWSR1 (Q018441, 2, 3 ENSP000003810314) via UniProtKB, MINT, STRING, and/or I2D (see all 876)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP1Q153652, 3, ENSP000003055564MINT-2858723 MINT-7947479 I2D: score=2 STRING: ENSP00000305556
    SMN1Q166372, 3, ENSP000003700834MINT-7947479 I2D: score=1 STRING: ENSP00000370083
    FASNP493272, 3, ENSP000003045924MINT-7947479 I2D: score=3 STRING: ENSP00000304592
    RPL31P628992, 3, ENSP000003867174MINT-7947479 I2D: score=3 STRING: ENSP00000386717
    ATXN3P542522, 3, ENSP000003523244MINT-2858647 I2D: score=2 STRING: ENSP00000352324
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with EWSR1           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 EWSR1 (EWS)

    1 HMDB Compound for EWSR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for EWSR1 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nor 1 72.9 8 11673470 (3), 18680143 (1), 16112421 (1)
    askin 71.9 1 12560386 (1)
    paraffin 35.6 3 16189150 (1), 15354743 (1), 10430278 (1)
    zinc 20.2 6 8522311 (1), 10074970 (1), 9795213 (1), 9354795 (1) (see all 6)
    tyrosine 0.575 5 9201297 (3), 8307570 (1), 17202261 (1)
    oligonucleotide 0 1 8238248 (1)
    cyclic amp 0 1 15150091 (1)
    arginine 0 2 15737635 (1), 15094065 (1)
    serine 0 1 8307570 (1)
    retinoic acid 0 1 12537770 (1)



    Find genes that share compounds with EWSR1           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 EWSR1 gene (5 alternative transcripts): 
    NM_001163285.1  NM_001163286.1  NM_001163287.1  NM_005243.3  NM_013986.3  

    Unigene Cluster for EWSR1:

    Ewing sarcoma breakpoint region 1
    Hs.374477  [show with all ESTs]
    Unigene Representative Sequence: BX648769
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000444626 ENST00000397938(uc003aes.4 uc003aev.3 uc003aet.3 uc003aex.3 uc003aew.3 uc003aey.3)
    ENST00000436425 ENST00000447973 ENST00000485037 ENST00000406548 ENST00000437155
    ENST00000415761 ENST00000331029 ENST00000483415 ENST00000414183 ENST00000333395
    ENST00000455726 ENST00000332035 ENST00000493426 ENST00000479135(uc003aez.3)
    ENST00000469669 ENST00000483629
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    hsa-miR-1178 hsa-miR-136 hsa-miR-875-5p hsa-miR-548k hsa-miR-340 hsa-miR-29b-1* hsa-miR-299-5p hsa-miR-3688-3p
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      QuantiFast Probe-based Assays in human, mouse, rat EWSR1

    Additional mRNA sequence: 

    AK026270.1 AK056309.1 AK056681.1 AK096787.1 AK127624.1 AK225096.1 AK225102.1 AL833489.1 
    BC000527.2 BC004817.1 BC011048.1 BC072442.1 BX648769.1 CR456490.1 EU327511.1 FJ573261.1 
    JN624779.1 X66899.1 

    Selected DOTS entries (see all 79):

    DT.86850959  DT.100850539  DT.95259529  DT.95177075  DT.92463886  DT.100804444  DT.100806295  DT.92463876 
    DT.97851466  DT.100687971  DT.100850943  DT.121359760  DT.100858739  DT.95259549  DT.100872006  DT.92463884 
    DT.91724771  DT.92463887  DT.100857431  DT.100840618  DT.100687992  DT.95359984  DT.100687985  DT.120631430 

    Selected AceView cDNA sequences (see all 878):

    BQ647089 BQ637229 BU150303 CR619493 BQ015252 AA746059 BI261921 CA448726 
    BM474270 BI821599 CR608666 BQ059077 CR618632 BM555406 BX503155 AI129250 
    BM687032 BE897260 BU187885 BG393517 CR610888 CF132420 CD107251 AW205707 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EWSR1 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for EWSR1

    (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)
    About This Section

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    EWSR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCGAGGTG
    EWSR1 Expression
    About this image


    EWSR1 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 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    EWSR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EWSR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.374477

    UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including EWSR1: 
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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 EWSR1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ewsr15 Ewing sarcoma breakpoint region 1   --   11 (3.22 cM) 5069689 
    chicken
    (Gallus gallus)
    Aves EWSR16
    Gallus gallus Ewing sarcoma breakpoint region 1 (E...
    86(a)
    1 ↔ 1
    15(11149676-11171682)
    lizard
    (Anolis carolinensis)
    Reptilia EWSR16
    EWS RNA-binding protein 1
    85(a)
    1 ↔ 1
    GL343417.1(98659-110655)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77052 Xenopus laevis, Similar to Ewing sarcoma breakpoint more 77.94(n)    BC043904.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc04c012 Danio rerio cDNA clone IMAGE6789697, partial cds 75.69(n)    BC056281.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta caz6
    CG147186
    --
    41(a)
    26(a)
    many ↔ many
    many ↔ many
    X(16182879-16187553)
    3R(7526336-7528442)


    ENSEMBL Gene Tree for EWSR1 (if available)
    TreeFam Gene Tree for EWSR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EWSR1 gene
    TAF152  FUS2  
    5 SIMAP similar genes for EWSR1 using alignment to 11 protein entries:     EWS_HUMAN (see all proteins):
    EWSR1/ZNF384 fusion    EWSR1/ATF1 fusion    EWSR1/FLI1 fusion    FUS    TAF15

    Find genes that share paralogs with EWSR1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for EWSR1
    PGOHUM00000258792 PGOHUM00000244322


    (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 EWSR1 (see all 828)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs579833441,2
    C,F--13584009(+) CACAGC/GCCCTC 5 -- us2k12Minor allele frequency- G:0.09WA 120
    rs1139116331,2
    C,F--13584015(+) CCCTCT/CGGCCC 5 -- us2k12Minor allele frequency- C:0.12CSA WA 120
    rs1871855991,2
    --13584054(+) GTATGC/TGCTCC 5 -- us2k10--------
    rs1174746931,2
    C,F--13584117(+) GATGAG/ACCTCA 5 -- us2k11Minor allele frequency- A:0.03NA 120
    rs622260821,2
    C,F--13584186(+) CTCAGG/AGTATG 5 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1911953471,2
    --13584280(+) CAGGCA/GTCTGT 5 -- us2k10--------
    rs1120041801,2
    F--13584413(+) GTGCTG/CTTCTC 5 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1837485751,2
    --13584415(+) GCTGTC/TCTCTT 5 -- us2k10--------
    rs770786851,2
    F--13584634(+) TTCCCT/CCCATT 5 -- us2k11Minor allele frequency- C:0.01NA 120
    rs1889229301,2
    --13584743(+) GCACAC/GCTTGG 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for EWSR1 (29663998 - 29696515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for EWSR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724123CNV Deletion23290073
    esv2169204CNV Deletion18987734
    esv991613CNV Deletion20482838
    esv2669638CNV Deletion23128226
    esv21927CNV Loss19812545
    nsv834171CNV Loss17160897
    dgv4951n71CNV Loss21882294
    nsv829155CNV Loss20364138
    nsv829154CNV Gain20364138

    Human Gene Mutation Database (HGMD): EWSR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EWSR1
    DNA2.0 Custom Variant and Variant Library Synthesis for EWSR1

    (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: 133450    OMIM disorders: --

    UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844
  • 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 disease is caused by mutations affecting the gene represented in this entry. Chromosomal
    aberrations involving EWSR1 are found in patients with Ewing sarcoma. Translocation t(11;22)(q24;q12) with FLI1;
    translocation t(7;22)(p22;q12) with ETV1; translocation t(21;22)(q22;q12) with ERG; translocation
    t(9;22)(q22-31;q11-12) with NR4A3. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein
    with potential oncogenic activity
  • Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor
    (DSRCT). Translocation t(11;22)(p13;q12) with WT1
  • Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP).
    Translocation t(12;22)(q13;q12) with ATF-1. Malignant melanoma of soft parts, also known as soft tissue clear
    cell sarcoma, is a rare tumor developing in tendons and aponeuroses
  • Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma. Translocation
    t(11;22)(p36.1;q12) with PATZ1
  • Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma
    that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic
    microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of
    hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a
    lymph node metastasis. Note=The disease may be caused by mutations affecting the gene represented in this entry.
    Chromosomal aberrations involving EWSR1 are found in patients with angiomatoid fibrous histiocytoma.
    Translocation t(12;22)(q13;q12) with ATF1 generates a chimeric EWSR1/ATF1 protein. Translocation t(2;22)(q33;q12)
    with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type
  • Note=EFPS arise due to chromosomal translocations in which EWSR1 is fused to a variety of cellular
    transcription factors. EFPS are very potent transcriptional activators dependent on the EAD and a C-terminal
    DNA-binding domain contributed by the fusion partner. The spectrum of malignancies associated with EFPS are
    thought to arise via EFP-induced transcriptional deregulation, with the tumor phenotype specified by the EWSR1
    fusion partner and cell type. Transcriptional repression of the transforming growth factor beta type II receptor
    (TGF beta RII) is an important target of the EWS-FLI1, EWS-ERG, or EWS-ETV1 oncogene

  • 18 diseases for EWSR1:    
    About MalaCards
    peripheral primitive neuroectodermal tumor    desmoplastic small round cell tumor    ewing's family of tumors    neuroepithelioma
    connective tissue benign neoplasm    extraosseous ewing's sarcoma    melanoma of soft parts    myxoid chondrosarcoma
    clear cell sarcoma    extraskeletal ewing sarcoma    extraskeletal myxoid chondrosarcoma    sarcoma
    imerslund-grasbeck syndrome    primitive neuroectodermal tumor    myxoid liposarcoma    dent's disease
    liposarcoma    chondrosarcoma

    12 diseases from the University of Copenhagen DISEASES database for EWSR1:
    Peripheral primitive neuroectodermal tumor     Sarcoma     Primitive neuroectodermal tumor     Chondrosarcoma
    Liposarcoma     Fibrous histiocytoma     Rhabdomyosarcoma     Synovial sarcoma
    Myoepithelioma     Bone cancer     Connective tissue benign neoplasm     Nephroblastoma

    Find genes that share disorders with EWSR1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EWSR1 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ewings sarcoma 96.3 155 12907633 (4), 9121764 (4), 12522555 (4), 16837212 (3) (see all 99)
    sarcoma clear cell 87.3 20 16258500 (5), 8187063 (2), 17000668 (1), 7493135 (1) (see all 15)
    liposarcoma myxoid 83.8 7 19190116 (1), 7493135 (1), 8187069 (1), 8954779 (1) (see all 6)
    peripheral neuroepithelioma 83.6 2 19725831 (1), 15735862 (1)
    primitive neuroectodermal tumor pnet 79.4 1 10623711 (1)
    desmoplastic small round-cell tumor 78.3 2 10912946 (1), 10430278 (1)
    sarcoma 74.5 34 18162764 (3), 18580682 (3), 17912356 (2), 8834175 (2) (see all 24)
    chondrosarcoma 70.8 23 18162764 (3), 7539287 (3), 18580682 (2), 8570200 (2) (see all 15)
    sarcoma extraosseous ewings 67.4 1 8605035 (1)
    neuroectodermal tumors 64.3 2 8307570 (1), 16046110 (1)


    Export disorders for EWSR1 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 EWSR1 gene, integrated from 10 sources (see all 424):
    (articles sorted by number of sources associating them with EWSR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. (PubMed id 1522903)1, 2, 3 Delattre O.... Thomas G. (Nature 1992)
    2. The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains. (PubMed id 8084618)1, 2, 9 Ohno T.... Reddy E.S.P. (Oncogene 1994)
    3. The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription. (PubMed id 9660765)1, 2, 9 Zhang D.... Childs G. (J. Biol. Chem. 1998)
    4. Transcriptional activation by the Ewing's sarcoma (EWS) oncogene can be cis-repressed by the EWS RNA-binding domain. (PubMed id 10767297)1, 2, 9 Li K.K.C. and Lee K.A.W. (J. Biol. Chem. 2000)
    5. The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain. (PubMed id 9341188)1, 2, 9 Deloulme J.C.... Storm D.R. (J. Biol. Chem. 1997)
    6. Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation. (PubMed id 8307570)1, 2, 9 Plougastel B.... Delattre O. (Genomics 1993)
    7. Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma. (PubMed id 7542907)1, 2, 9 Bhagirath T.... Yoshida M.C. (Genes Chromosomes Cancer 1995)
    8. Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. (PubMed id 15884099)1, 2, 9 Hallor K.H.... Panagopoulos I. (Genes Chromosomes Cancer 2005)
    9. Exposure on cell surface and extensive arginine methylation of Ewing sarcoma (EWS) protein. (PubMed id 11278906)1, 2, 9 Belyanskaya L.L.... Gehring H. (J. Biol. Chem. 2001)
    10. TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules. (PubMed id 18632687)1, 2 Goulet I.... Cote J. (Hum. Mol. Genet. 2008)

    (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: 2130 HGNC: 3508 AceView: EWSR1andGAS2L1 Ensembl:ENSG00000182944 euGenes: HUgn2130
    ECgene: EWSR1 Kegg: 2130 H-InvDB: EWSR1

    (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 EWSR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EWSR1 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 EWSR1 gene:
    Search GeneIP for patents involving EWSR1

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



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