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EWSR1 Gene(Protein Coding)

EWS RNA Binding Protein 1

GCID:
GC22P029269
GIFtS:
49
Genes Participants
UDN Logo

Aliases for EWSR1 Gene

Aliases for EWSR1 Gene

  • EWS RNA Binding Protein 1 2 3 5
  • Ewing Sarcoma Breakpoint Region 1 2 3
  • RNA-Binding Protein EWS 3 4
  • EWS 3 4
  • Ewings Sarcoma EWS-Fli1 (Type 1) Oncogene 3
  • Ewing Sarcoma Breakpoint Region 1 Protein 4
  • EWS RNA-Binding Protein Variant 6 3
  • EWS Oncogene 4
  • BK984G1.4 3
  • EWS-FLI1 3

External Ids for EWSR1 Gene

Previous GeneCards Identifiers for EWSR1 Gene

  • GC22P026360
  • GC22P027988
  • GC22P029663
  • GC22P012628

Summaries for EWSR1 Gene

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]

CIViC summary for EWSR1 Gene

  • Fusions between EWSR1 and multiple 3` partners are regularly identified in soft tissue sarcomas and can aid in differential diagnosis. The fusion product usually contains the N-terminal transcription-activating domain of EWSR1 and the C-terminal DNA-binding domain of the fusion partner, generating a novel transcription factor.

GeneCards Summary for EWSR1 Gene

EWSR1 (EWS RNA Binding Protein 1) is a Protein Coding gene. Diseases associated with EWSR1 include Ewing Sarcoma and Desmoplastic Small Round Cell Tumor. Among its related pathways are Chromatin Regulation / Acetylation and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is FUS.

UniProtKB/Swiss-Prot for EWSR1 Gene

  • Might normally function as a transcriptional 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 Gene

Additional gene information for EWSR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EWSR1 Gene

Genomics for EWSR1 Gene

GeneHancer (GH) Regulatory Elements for EWSR1 Gene

Promoters and enhancers for EWSR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J029265 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 624.5 +0.6 637 6.7 SP1 ZFX SIX5 CBFA2T2 ZNF148 NKRF POLR2A MLLT1 ZNF121 CEBPG EWSR1 RHBDD3 GAS2L1 RASL10A THOC5
GH22J029119 Enhancer 0.9 Ensembl 149.8 -147.7 -147697 0.7 MTA3 ZNF121 ZSCAN21 ZNF548 PRDM1 MLLT1 ZNF680 HDGF IKZF1 CREB1 EWSR1 TTC28 HSCB ENSG00000272858 MTMR3 C22orf31 CHEK2 ENSG00000226772 GC22P029136 KREMEN1
GH22J030234 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 48.2 +978.7 978721 24.6 ZNF652 ELF3 CC2D1A CTCF ZNF121 GTF2F1 ZNF384 ZSCAN21 MAFK ZBTB7A LIF ENSG00000268812 TUG1 SF3A1 EWSR1 MORC2 PES1 RNF215 TBC1D10A THOC5
GH22J029600 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 41.5 +335.5 335476 5 HDGF SP1 ZFX MNT NKRF POLR2A MLLT1 ZNF121 GTF2F1 ZNF384 NF2 GC22P029604 GC22P029605 GC22P029606 SF3A1 EWSR1 THOC5 CCDC117 NIPSNAP1 UQCR10
GH22J029552 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 33.7 +286.1 286131 3.9 SP1 ELF3 CTCF MNT NKRF CEBPG POLR2A ZNF687 ZSCAN21 MYC THOC5 SF3A1 EWSR1 NIPSNAP1 ENSG00000272858 TBC1D10A ENSG00000268812 RNF215 CCDC117 RHBDD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EWSR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EWSR1 gene promoter:
  • AML1a

Genomic Locations for EWSR1 Gene

Genomic Locations for EWSR1 Gene
chr22:29,268,009-29,300,525
(GRCh38/hg38)
Size:
32,517 bases
Orientation:
Plus strand
chr22:29,663,998-29,696,515
(GRCh37/hg19)
Size:
32,518 bases
Orientation:
Plus strand

Genomic View for EWSR1 Gene

Genes around EWSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EWSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EWSR1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EWSR1 Gene

Proteins for EWSR1 Gene

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  • Protein details for EWSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01844-EWS_HUMAN
    Recommended name:
    RNA-binding protein EWS
    Protein Accession:
    Q01844
    Secondary Accessions:
    • B0QYK1
    • Q5THL0
    • Q92635
    • Q96FE8
    • Q96MN4
    • Q96MX4
    • Q9BWA2

    Protein attributes for EWSR1 Gene

    Size:
    656 amino acids
    Molecular mass:
    68478 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA70044.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EWSR1 Gene

    Alternative splice isoforms for EWSR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EWSR1 Gene

Protein Expression for EWSR1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EWSR1 Gene

  • Phosphorylated; calmodulin-binding inhibits phosphorylation of Ser-266.
  • Highly methylated on arginine residues. Methylation is mediated by PRMT1 and, at lower level by PRMT8.
  • Ubiquitination at isoforms=3, 5, 6, 2433 and posLast=424424
  • Modification sites at PhosphoSitePlus

Other Protein References for EWSR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EWSR1 Gene

Domains & Families for EWSR1 Gene

Gene Families for EWSR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EWSR1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EWSR1 Gene

GenScript: Design optimal peptide antigens:
  • Ewing sarcoma breakpoint region 1 protein (EWS_HUMAN)
  • EWS-Fli1 protein (Q16198_HUMAN)
  • cDNA FLJ31747 fis, clone NT2RI2007377, highly similar to RNA-BINDING PROTEIN EWS (Q96MX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01844

UniProtKB/Swiss-Prot:

EWS_HUMAN :
  • 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.
  • Belongs to the RRM TET family.
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.
Family:
  • Belongs to the RRM TET family.
genes like me logo Genes that share domains with EWSR1: view

Function for EWSR1 Gene

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Molecular function for EWSR1 Gene

UniProtKB/Swiss-Prot Function:
Might normally function as a transcriptional 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.

Phenotypes From GWAS Catalog for EWSR1 Gene

Gene Ontology (GO) - Molecular Function for EWSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 16189514
GO:0005516 calmodulin binding IEA --
GO:0042802 identical protein binding IPI 21988832
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EWSR1: view
genes like me logo Genes that share phenotypes with EWSR1: view

Human Phenotype Ontology for EWSR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

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  • Addgene plasmids for EWSR1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EWSR1 Gene

Localization for EWSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EWSR1 Gene

Nucleus. Cytoplasm. Cell membrane. Note=Relocates from cytoplasm to ribosomes upon PTK2B/FAK2 activation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EWSR1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytoskeleton 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EWSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EWSR1: view

Pathways & Interactions for EWSR1 Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with EWSR1: view

Pathways by source for EWSR1 Gene

1 BioSystems pathway for EWSR1 Gene
1 KEGG pathway for EWSR1 Gene
2 Cell Signaling Technology pathways for EWSR1 Gene

SIGNOR curated interactions for EWSR1 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for EWSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with EWSR1: view

Drugs & Compounds for EWSR1 Gene

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(7) Drugs for EWSR1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611

(5) Additional Compounds for EWSR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EWSR1: view

Transcripts for EWSR1 Gene

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  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for EWSR1 Gene

(5) REFSEQ mRNAs :
(30) Additional mRNA sequences :
(878) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for EWSR1 Gene

Ewing sarcoma breakpoint region 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for EWSR1 - Now 50% OFF >
  • * EWSR1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EWSR1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for EWSR1

Alternative Splicing Database (ASD) splice patterns (SP) for EWSR1 Gene

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: -
SP6: -
SP7:
SP8:
SP9: - -
SP10: -

Relevant External Links for EWSR1 Gene

GeneLoc Exon Structure for
EWSR1
ECgene alternative splicing isoforms for
EWSR1

Expression for EWSR1 Gene

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GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EWSR1 Gene

mRNA expression in normal human tissues for EWSR1 Gene
mRNA expression by BioGPS for EWSR1 GenemRNA expression by GTEx for EWSR1 Gene

Protein differential expression in normal tissues from HIPED for EWSR1 Gene

This gene is overexpressed in Nasal epithelium (9.2) and Lymph node (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EWSR1 Gene



Protein tissue co-expression partners for EWSR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EWSR1 Gene:

EWSR1

SOURCE GeneReport for Unigene cluster for EWSR1 Gene:

Hs.374477

mRNA Expression by UniProt/SwissProt for EWSR1 Gene:

Q01844-EWS_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for EWSR1 Gene

  • Nervous system(5)
  • Skin(4.8)
  • Liver(4.7)
  • Muscle(4.7)
  • Kidney(4.1)
  • Intestine(4)
  • Blood(3.9)
  • Eye(3.8)
  • Lung(3.8)
  • Bone marrow(2.8)
  • Lymph node(2.8)
  • Pancreas(2.7)
  • Heart(2.3)
  • Adrenal gland(2.2)
  • Bone(2.2)
  • Stomach(2.2)
  • Spleen(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EWSR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • lymphatic
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • lymph node
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with EWSR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EWSR1 Gene

Orthologs for EWSR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EWSR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EWSR1 35
  • 100 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia EWSR1 35
  • 99 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ewsr1 35
  • 98 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia -- 35
  • 96 (a)
 OneToMany
-- 35
  • 93 (a)
 OneToMany
-- 35
  • 90 (a)
 OneToMany
-- 35
  • 90 (a)
 OneToMany
-- 35
  • 86 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia EWSR1 35
  • 95 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia EWSR1 35
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EWSR1 35
  • 86 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EWSR1 35
  • 85 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7705 34
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC76258 34
zebrafish
(Danio rerio)
 Actinopterygii ewsr1a 35 34
  • 60.68 (n)
 OneToMany
ewsr1b 35
  • 58 (a)
 OneToMany
wufc04c01 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10118 34
fruit fly
(Drosophila melanogaster)
 Insecta caz 35
  • 41 (a)
 ManyToMany
CG14718 35
  • 26 (a)
 ManyToMany
Species where no ortholog for EWSR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EWSR1 Gene

ENSEMBL:
Gene Tree for EWSR1 (if available)
TreeFam:
Gene Tree for EWSR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EWSR1: view image

Paralogs for EWSR1 Gene

Paralogs for EWSR1 Gene

(5) SIMAP similar genes for EWSR1 Gene using alignment to 11 proteins:

  • EWS_HUMAN
  • B0QYJ3_HUMAN
  • B0QYJ4_HUMAN
  • B0QYJ5_HUMAN
  • B0QYJ6_HUMAN
  • B0QYJ7_HUMAN
  • B0QYK0_HUMAN
  • C9JGE3_HUMAN
  • F8WC90_HUMAN
  • H7BY36_HUMAN
  • V5JZ30_HUMAN

Pseudogenes.org Pseudogenes for EWSR1 Gene

genes like me logo Genes that share paralogs with EWSR1: view

Variants for EWSR1 Gene

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Sequence variations from dbSNP and Humsavar for EWSR1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000110207 -- 29,280,325(+) C/G/T intron_variant
rs1000187053 -- 29,266,814(+) T/G upstream_transcript_variant
rs1000197310 -- 29,295,986(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000218198 -- 29,267,045(+) A/G upstream_transcript_variant
rs1000233730 -- 29,268,585(+) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EWSR1 Gene

Variant ID Type Subtype PubMed ID
esv2169204 CNV deletion 18987734
esv21927 CNV loss 19812545
esv2669638 CNV deletion 23128226
esv2724123 CNV deletion 23290073
esv3647528 CNV loss 21293372
esv3647529 CNV loss 21293372
esv991613 CNV deletion 20482838
nsv1073159 CNV deletion 25765185
nsv1112372 CNV deletion 24896259
nsv1149945 CNV deletion 26484159
nsv829154 CNV gain 20364138
nsv829155 CNV loss 20364138
nsv834171 CNV loss 17160897

Variation tolerance for EWSR1 Gene

Residual Variation Intolerance Score: 7.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EWSR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EWSR1
Human Gene Mutation Database (HGMD)
EWSR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EWSR1 Gene

Disorders for EWSR1 Gene

MalaCards: The human disease database

(57) MalaCards diseases for EWSR1 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
desmoplastic small round cell tumor
  • desmoplastic small round-cell tumor
extraskeletal ewing sarcoma
  • extraosseous ewing sarcoma
chondrosarcoma, extraskeletal myxoid
  • emc
melanoma of soft tissue
  • clear cell sarcoma of the tendons and aponeuroses
- elite association - COSMIC cancer census association via MalaCards
Search EWSR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EWS_HUMAN
  • 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. {ECO:0000269 PubMed:15044653, ECO:0000269 PubMed:1522903, ECO:0000269 PubMed:7700648, ECO:0000269 PubMed:9121764}. Note=The protein represented in this entry is involved in disease pathogenesis. Chromosomal aberrations involving EWSR1 are found in patients with Ewing sarcoma. Translocation t(11;22)(q24;q12) with FLI1 (PubMed:1522903, PubMed:15044653). Translocation t(7;22)(p22;q12) with ETV1 (PubMed:7700648). Translocation t(21;22)(q22;q21) with ERG (PubMed:15044653). Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with potential oncogenic activity (PubMed:9121764). {ECO:0000269 PubMed:15044653, ECO:0000269 PubMed:1522903, ECO:0000269 PubMed:7700648, ECO:0000269 PubMed:9121764}.
  • Note=A chromosomal aberration involving EWSR1 has been found in extraskeletal myxoid chondrosarcoma. Translocation t(9;22)(q22-31;q11-12) with NR4A3. {ECO:0000269 PubMed:7539287}.
  • Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with WT1. {ECO:0000269 PubMed:7862627}.
  • Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP). Translocation t(12;22)(q13;q12) with ATF1. Malignant melanoma of soft parts, also known as soft tissue clear cell sarcoma, is a rare tumor developing in tendons and aponeuroses. {ECO:0000269 PubMed:8401579}.
  • Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma. Translocation t(11;22)(p36.1;q12) with PATZ1. {ECO:0000269 PubMed:10949935}.
  • 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. {ECO:0000269 PubMed:15884099, ECO:0000269 PubMed:17724745}. Note=The gene represented in this entry is involved in disease pathogenesis. 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 (PubMed:15884099). Translocation t(2;22)(q33;q12) with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type (PubMed:17724745). {ECO:0000269 PubMed:15884099, ECO:0000269 PubMed:17724745}.
  • 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. {ECO:0000305}.

Additional Disease Information for EWSR1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for EWSR1 Gene

  1. Transcriptional activation by the Ewing's sarcoma (EWS) oncogene can be cis-repressed by the EWS RNA-binding domain. (PMID: 10767297) Li KK … Lee KA (The Journal of biological chemistry 2000) 3 4 23 58
  2. The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription. (PMID: 9660765) Zhang D … Childs G (The Journal of biological chemistry 1998) 3 4 23 58
  3. The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain. (PMID: 9341188) Deloulme JC … Storm DR (The Journal of biological chemistry 1997) 3 4 23 58
  4. Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma. (PMID: 7542907) Bhagirath T … Yoshida MC (Genes, chromosomes & cancer 1995) 3 4 23 58
  5. 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. (PMID: 8084618) Ohno T … Reddy ES (Oncogene 1994) 3 4 23 58

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