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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EWSR1 Gene

protein-coding GIFtS: 60
GCID: GC22P029663

Ewing sarcoma breakpoint region 1

Explore 53 diseases affiliated with
EWSR1 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Ewing Sarcoma Breakpoint Region 1¹ ²		RNA-Binding Protein EWS²
EWS¹ ² ³ ⁵		Ewing Sarcoma Breakpoint Region 1 Protein³
BK984G1.4¹		EWS Oncogene³
Ewings Sarcoma EWS-Fli1 (Type 1) Oncogene²

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

Export aliases for EWSR1 gene to outside databases

Previous GC identifers: GC22P026360 GC22P027988 GC22P012628

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

Entrez Gene summary for EWSR1:

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)

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EWSR1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EWSR1 promoter sequence

Search SABiosciences Chromatin IP Primers for EWSR1

Epigenetics:

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

UniProtKB/Swiss-Prot: 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

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

activation

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q01844

EWSR1 Protein expression data from MOPED and PaxDb: About this image

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

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	Novus Biologicals EWSR1 Protein Novus Biologicals EWSR1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EWSR1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--

EWSR1 for ontologies About GeneDecksing

EWSR1 Antibody Products:

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	Uscn ELISAs and CLIAs for EWSR1

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

EWSR1 for domains About GeneDecksing

3 InterPro domains/families:

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 families:

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

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

Function Summary:

UniProtKB/Swiss-Prot: 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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EWSR1
		8/17 QIAGEN miScript miRNA 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 plasmid: EWSR1 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EWSR1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--
GO:0005515	protein binding	IPI	18347058
GO:0005516	calmodulin binding	IEA	--

EWSR1 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for EWSR1:

Decreased nuclei size in G2M

Increased cell death HMECs cel

Increased gamma-H2AX phosphory

Animal Models:
14 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ewsr1):

adipose tissue	cellular	endocrine/exocrine gland	growth/size	hematopoietic system
immune system	integument	mortality/aging	muscle	normal
renal/urinary system	reproductive system	skeleton	tumorigenesis

EWSR1 for phenotypes About GeneDecksing

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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Chromatin Regulation / Acetylation

Chromatin Regulation / Acetylation

1.00

Translational Control

Translational Control

1.00

Fanconi Anemia pathway

BARD1 signaling events

0.23

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Cell Signaling Technology (CST) Pathways for EWSR1

	Chromatin Regulation / Acetylation
	Translational Control

1 BioSystems Pathway for EWSR1

BARD1 signaling events

EWSR1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EWSR1

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

5/827 Interacting proteins for EWSR1 (Q01844^{1, 2, 3} ENSP00000381031⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 827)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCBP1	Q15365²^,³, ENSP00000305556⁴	MINT-2858723 MINT-7947479 I2D: score=2 STRING: ENSP00000305556
SMN1	Q16637²^,³, ENSP00000370083⁴	MINT-7947479 I2D: score=1 STRING: ENSP00000370083
FASN	P49327²^,³, ENSP00000304592⁴	MINT-7947479 I2D: score=3 STRING: ENSP00000304592
RPL31	P62899²^,³, ENSP00000386717⁴	MINT-7947479 I2D: score=3 STRING: ENSP00000386717
ATXN3	P54252²^,³, ENSP00000352324⁴	MINT-2858647 I2D: score=2 STRING: ENSP00000352324

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

EWSR1 for ontologies About GeneDecksing

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

EWSR1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for EWSR1

1 HMDB Compound for EWSR1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/11 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about EWSR1 / EWS

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

REFSEQ mRNAs for 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

18/21 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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		8/17 QIAGEN miScript miRNA 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 plasmid: EWSR1 3' UTR sequence

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Additional cDNA 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

24/79 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.100687985 DT.120631430 DT.97863794

24/878 AceView cDNA sequences (see all 878):

CB045629 BQ772454 BE856660 BQ055779 CB141401 BG686940 CD369997 AA362570

BQ217364 BM561745 BQ893572 AK096787 CB215378 CA450030 CF132420 AJ709138

BQ059127 AL079604 BC004817 AA968521 CR608375 BM909586 BX105941 BM835802

GeneLoc Exon Structure

5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EWSR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACCGAGGTG

About this image
See EWSR1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EWSR1

SOURCE GeneReport for Unigene cluster: Hs.374477

UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Array including EWSR1:

Tumor Metastasis in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EWSR1

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

This gene was present in the common ancestor of animals.

Orthologs for EWSR1 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EWSR1¹	Ewing sarcoma breakpoint region 1	72.08(n) 75.39(a)		417022 NM_001039267.1 NP_001034356.1
lizard (Anolis carolinensis)	Reptilia	EWSR1⁶	--	84(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 vas⁶	vasa	36(a) 3(a)	1 ↔ many possible ortholog	X(16182879-16187553) 2L(15061656-15074383)
worm (Caenorhabditis elegans)	Secernentea	K07H8.10⁶ fust-1⁶ (see all 4)	Protein FUST-1 (see all 4)	4(a) 23(a) (see all 4)	possible ortholog 1 ↔ many (see all 4)	IV(8286573-8289518) II(7152525-7155433)

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)
About This Section

Paralogs for EWSR1 gene

FUS² TAF15²

5 SIMAP similar genes for EWSR1 using alignment to 10 protein entries: EWS_HUMAN (see all proteins):

EWSR1/ZNF384 fusion EWSR1/ATF1 fusion EWSR1/FLI1 fusion FUS TAF15

EWSR1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for EWSR1
PGOHUM00000258792 PGOHUM00000244322

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs57983344^1,2	C,	--	12626579(+)	`CACAGC/GCCCTC`	5	--	us2k¹		2	WA	120
rs113911633^1,2		--	12626585(+)	`CCCTCT/CGGCCC`	5	--	us2k¹		2	CSA WA	120
rs62226082^1,2		--	12626756(+)	`CTCAGG/AGTATG`	5	--	us2k¹		1	NA	2
rs112004180^1,2		--	12626983(+)	`GTGCTG/CTTCTC`	5	--	us2k¹		1	CSA	2
rs77078685^1,2		--	12627204(+)	`TTCCCT/CCCATT`	5	--	us2k¹		1	NA	120
rs78338750^1,2	F,	--	12627542(+)	`AGGTGG/AGCAGG`	5	--	us2k¹		1	WA	118
rs113274927^1,2		--	12628397(+)	`TCTCCG/AGTTTC`	5	--	ut5¹		2	CSA WA	120
rs116729446^1,2	C,F,	--	12628464(+)	`GTCACG/ATCGGG`	5	--	ut5¹		1	WA	118
rs73884709^1,2	C,	--	12628751(+)	`TCTCTG/AGGCTT`	5	--	int¹		2	WA	120
rs34091309^1,2	C,	--	12629220(+)	`GACCCA/CGTCGG`	5	--	int¹		2	NA	122

HapMap Linkage Disequilibrium report for EWSR1 (29663998 - 29696515 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for EWSR1
2 CNVs: 91021 67864
Human Gene Mutation Database (HGMD): EWSR1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
About This Section

EWSR1 for disorders           About GeneDecksing

OMIM gene information: 133450
OMIM disorders: 612219
UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844

Defects in EWSR1 are a cause of Ewing sarcoma (ES) [MIM:612219]. A highly malignant, metastatic, primitive

small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma

family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They

are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated

form of the tumors. Note=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

Defects in EWSR1 may be a cause of 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=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

20/53 diseases for EWSR1 (see all 53): About MalaCards

sarcoma desmoplastic small round cell tumor primitive neuroectodermal tumor extraskeletal myxoid chondrosarcoma

extraosseous ewing's sarcoma peripheral primitive neuroectodermal tumor localized ewing's sarcoma myxoid chondrosarcoma

neuroectodermal tumors fibrous histiocytoma central nervous system cancer malignant fibrous histiocytoma

ring chromosomes neuroepithelioma soft tissue sarcoma myxoid liposarcoma

liposarcoma olfactory neuroblastoma amyotrophic lateral sclerosis histiocytoma

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

Bone cancer Myoepithelioma Nephroblastoma Connective tissue benign neoplasm

10/24 Novoseek 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)
About This Section

PubMed articles for EWSR1 gene, integrated from 9 sources (see all 401):
(articles sorted by number of sources associating them with EWSR1)

Utopia: connect your pdf to the dynamic
world of online information

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. (1992)
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. (1994)
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. (1998)
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. (2000)
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. (1997)
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. (1993)
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. (1995)
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. (2005)
Exposure on cell surface and extensive arginine methylation of Ewing sarcoma (EWS) protein. (PubMed id 11278906)^{1, 2, 9} Belyanskaya L.L.... Gehring H. (2001)
TDRD3, a novel Tudor domain-containing protein, localizes to cytoplasmic stress granules. (PubMed id 18632687)^{1, 2} Goulet I.... Cote J. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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	H-InvDB: EWSR1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for EWSR1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for EWSR1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for EWSR1 gene
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Patent Information for EWSR1 gene:
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GeneCards and IP:
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Ewing sarcoma breakpoint region 1

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Ewing sarcoma breakpoint region 1

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