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EWSR1 Gene

protein-coding GIFtS: 60

GC22P027988

Ewing sarcoma breakpoint region 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
EWS ^¹, ², ³, ⁵

Descriptions
EWS oncogene ^³
Ewing sarcoma breakpoint region 1 ^²
Ewing sarcoma breakpoint region 1 protein ^³
Ewings sarcoma EWS-Fli1 (type 1) oncogene ^²
bK984G1.4 (Ewing sarcoma breakpoint region 1 protein) ^²

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

Search outside databases for aliases for EWSR1 gene

Previous GC identifer: GC22P026360

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

EntrezGene summary for EWSR1:

This gene encodes a putative RNA binding 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 two products. [provided by

RefSeq]

UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844

Function: Might normally function as a 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EWSR1 gene

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)

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P027988: (about GC identifiers)

Start:	27,994,017 bp from pter
End:	28,026,515 bp from pter
Size:	32,499 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Subcellular location: Nucleus. Cytoplasm. Cell membrane. Note=Relocates from cytoplasm to ribosomes

upon PTK2B/FAK2 activation

Miscellaneous: 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

Miscellaneous: Binds calmodulin in the presence, but not in the absence, of calcium ion

PDB structures from and Proteopedia :

2CPE (3D)

Secondary accessions: Q92635

Alternative splicing: 2 isoforms: Q01844-1 Q01844-2

Post-translational modifications:

Phosphorylated; calmodulin-binding inhibits phosphorylation of Ser-266¹

Highly methyalted on arginine residues. Methylation is mediated by PRMT1 and, at lower level by

PRMT8¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_005234.1 NP_053733.1

ENSEMBL proteins:

ENSP00000327456 ENSP00000330516 ENSP00000385726 ENSP00000381031 ENSP00000330896 ENSP00000383943

ENSP00000331699

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (EWSR1)
	Human Recombinant Proteins from Abnova (EWSR1)

OriGene Purified Recombinant Human Protein: EWSR1

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0009986	cell surface	IEA	--

About this table

Antibodies for EWSR1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for EWSR1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (EWSR1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EWSR1)
	Novus Biologicals Antibodies for EWSR1

Assays for EWSR1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EWSR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_013986

Applied Biosystems Silencer® siRNAs for EWSR1

Sigma-Aldrich siRNA and siRNA Panels for EWSR1

Sigma-Aldrich shRNA for EWSR1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for EWSR1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_005243
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_005243
untagged cDNA clones in CMV expression vector (see all 5): AK096787

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005243

UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844

Function: Might normally function as a 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

12 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ewsr1):

adipose tissue	cellular	endocrine/exocrine gland	growth/size	hematopoietic system
immune system	lethality-postnatal	life span-post-weaning/aging	muscle	reproductive system
skeleton	tumorigenesis

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003723	RNA binding	TAS	8084618
GO:0005516	calmodulin binding	IEA	--
GO:0008270	zinc ion binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

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

5/64 Interacting proteins for EWSR1 (Q01844^{1, 2} ENSP00000330516³) via UniProtKB, MINT, and/or STRING (see all 64 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARHGDIA	P52565¹	EBI-739737, EBI-712693
CD2BP2	O95400¹	EBI-739737, EBI-768015
GSK3B	P49841¹	EBI-739737, EBI-373586
ILK	Q13418¹	EBI-739737, EBI-747644
NDRG1	Q92597¹	EBI-739737, EBI-716486

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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006350	transcription	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EWSR1
6 Novoseek chemical compound relationships for EWSR1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
nor 1	73.75	8	11673470 (3), 18680143 (1), 16112421 (1)
askin	73.13	1	12560386 (1)
zinc	22.15	6	8522311 (1), 10074970 (1), 9795213 (1), 9354795 (1) (see all 6)
tyrosine	2.58	5	9201297 (3), 8307570 (1), 17202261 (1)
oligonucleotide	0.00	1	8238248 (1)
cyclic amp	0.00	1	15150091 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EWSR1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_013986

Sigma-Aldrich siRNA and siRNA Panels for EWSR1

Sigma-Aldrich shRNA for EWSR1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005243 NM_013986

REFSEQ mRNAs for EWSR1 gene (2 alternative transcripts):

NM_005243.2 NM_013986.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005243 NM_013986

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_005243
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_005243
                                 untagged cDNA clones in CMV expression vector (see all 5): AK096787

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 CR593724.1 CR594868.1

CR602561.1 CR604639.1 CR604952.1 CR608375.1 CR608666.1 CR610888.1 CR617490.1 CR618632.1

CR619493.1 CR625247.1 EU327511.1 X66899.1

24/79 DOTS entries (see all 79 ):

DT.86850959 DT.100850539 DT.95177075 DT.95259529 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.95359984 DT.100687992 DT.100687985 DT.120631430

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

BM909485 NM_005243 BE311429 AK096787 AL079604 BP872470 CR625247 BX281031

CD517584 BI254700 BU187885 AW137235 BM472896 BM762818 BI821599 H55137

BU617045 BM909586 BC007624 BU150303 BQ574287 AA968521 BU838580 BU845311

highest scoring ESTs for EWSR1:

X66899 AA126790 AA126840 AA362570 AA454643 AA456240 AA457024 AA464184 AA464778 AA570629

Unigene Cluster for EWSR1:

Ewing sarcoma breakpoint region 1

Hs.374477 [show with all ESTs]

Unigene Representative Sequence: BX648769

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for EWSR1 (see all 10 )

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:																																							-

About this scheme

ECgene alternative splicing isoforms for EWSR1

7 Ensembl transcripts including schematic representations:

ENST00000333395 ENST00000331029 ENST00000406548 ENST00000397938 ENST00000332050 ENST00000405024

ENST00000332035

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EWSR1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EWSR1

¹ / ² / ³

15 probe-sets matching EWSR1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
83723_at²^{, 3}	U95-E	1	1.00	1.00	0.89	1.13	AA744786	0.60	1.00	0.82	1
51087_at²^{, 3}	U95-B	1	1.00	1.00	0.36	0.66	AA876206	0.40	1.00	0.76	1
63247_r_at²^{, 3}	U95-C	2	1.00	0.97	0.32	0.22	T86839	0.40	1.00	0.76	1
423_at²^{, 3}	U95-A	3	1.00	0.74	0.90	1.20	X66899	1.00	1.00	1.00	1
90037_at²^{, 3}	U95-D	2	1.00	0.66	0.56	1.87	AW001288	0.80	1.00	0.91	1
210012_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BC000527	0.60	1.00	0.82	1
229966_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW089574	0.40	1.00	0.76	1
209214_s_at²^{, 3}	U133-A	3	1.00	0.64	--	--	BC004817	0.80	1.00	0.91	1
211825_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF327066	0.40	0.67	0.55	1
210011_s_at²^{, 3}	U133-A	3	1.00	0.50	--	--	BC000527	0.60	1.00	0.82	1
210012_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
229966_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209214_s_at²	U133Plus2	3	1.00	0.64	--	--	--	--	--	--	--
211825_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
210011_s_at²	U133Plus2	3	1.00	0.50	--	--	--	--	--	--	--

GeneDecks EWSR1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GACCGAGGTG

SOURCE GeneReport for Unigene cluster: Hs.374477
Expression variation in blood from EXPOLDB for EWSR1
UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844
Tissue specificity: Ubiquitous

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EWSR1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	EWSR1¹	--	Ewing sarcoma breakpoint region 1	95.42(n) 99.21(a)	609786 XM_860075.1 XP_865168.1
chimpanzee (Pan troglodytes)	EWSR1¹	--	Ewing sarcoma breakpoint region 1	99.53(n) 99.84(a)	748264 XM_001173250.1 XP_001173250.1
cow (Bos taurus)	EWSR1¹	--	Ewing sarcoma breakpoint region 1	93.28(n) 98.78(a)	534073 XM_875702.2 XP_880795.2
rat (Rattus norvegicus)	Ewsr1¹	--	Ewing sarcoma breakpoint region 1	94.11(n) 98.63(a)	289752 XM_001065285.1 XP_001065285.1
mouse (Mus musculus)	Ewsr1^{1, 5}	11⁵	Ewing sarcoma breakpoint region 1^{1, 5}	93.44(n)¹ 97.86(a)¹	14030¹ NM_007968.2¹ NP_031994.2¹ AK014366⁵ AK019460⁵ (see all 22)

About this table Species with no ortholog for EWSR1

ENSEMBL Gene Tree for EWSR1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for EWSR1 gene

TAF15² FUS²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/200 NCBI SNPs in EWSR1 are shown (see all 200 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 81)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1055852^1,2	A,C,H	28026438(+)	`GGCCTC/TTTAAC`	2	--	ut3¹ ese³		5	MN EU EA WA	602
	rs131190^1,2	A,C,F,H,O	28022497(+)	`TAGTAT/GTAGCA`	2	--	int¹		4	EU EA WA	416
	rs140065^1,2	A,C,F,H,O	28022488(+)	`TCCCTT/GCAGTA`	2	--	int¹		7	EU EA WA NA	552
	rs4820804^1,2	A,C,F,H	27999693(+)	`GTTCAT/CGTATG`	2	--	int¹		4	EU EA WA	416
	rs5763131^1,2	A,C,F,H	28015752(+)	`TCCATA/GTTAGC`	2	--	int¹		15	EU EA WA NA	1338
	rs2518683^1,2	C,F,H,O	28025929(+)	`ATGTCT/GCTAGG`	2	--	int¹		11	NA EU EA WA	978
	rs3788410^1,2	A,C,F,H	28000939(+)	`TCTTAT/CTTTCA`	2	--	int¹		16	EU EA WA NS NA	1074
	rs4820803^1,2	A,C,F,H	27999648(+)	`ATTTTG/CGTTCT`	2	--	int¹		17	EU EA WA NS NA	1240
	rs2857461^1,2	C,F,H,O	27998004(+)	`TCCCAT/CAGTCA`	2	--	int¹		11	EU EA WA NA	976
	rs140062^1,2	C,F,H,O	28005401(+)	`CCTACA/GTTGTA`	2	--	int¹		16	EA NA EU WA	1202

About this table

HapMap Linkage Disequilibrium images for EWSR1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 133450 disorders: 612219 612219

UniProtKB/Swiss-Prot: EWS_HUMAN, Q01844

Chromosomal aberrations involving EWSR1 are a cause of Ewing sarcoma [MIM:133450].

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

A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell

tumor (DSRCT). Translocation t(11;22)(p13;q12) with WT1

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

A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma.

Translocation t(11;22)(p36.1;q12) with PATZ1

Chromosomal aberrations involving EWSR1 are associated with angiomatoid fibrous

histiocytoma (AFH) [MIM:612160]. 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

10/23 Novoseek disease relationships for EWSR1 gene (see all 23 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ewings sarcoma	96.36	150	12907633 (4), 9121764 (4), 12522555 (4), 16837212 (3) (see all 99)
sarcoma clear cell	86.23	18	16258500 (5), 8187063 (2), 17000668 (1), 7493135 (1) (see all 13)
liposarcoma myxoid	84.66	7	19190116 (1), 7493135 (1), 8187069 (1), 8954779 (1) (see all 6)
peripheral neuroepithelioma	82.77	1	15735862 (1)
desmoplastic small round-cell tumor	79.66	2	10912946 (1), 10430278 (1)
primitive neuroectodermal tumor pnet	76.90	1	10623711 (1)
sarcoma	73.74	33	18162764 (3), 18580682 (3), 17912356 (2), 8834175 (2) (see all 23)
chondrosarcoma	71.01	22	18162764 (3), 7539287 (3), 18580682 (2), 8570200 (2) (see all 14)
sarcoma extraosseous ewings	68.90	1	8605035 (1)
tumors	63.29	112	10842247 (4), 8084618 (3), 8522311 (2), 10078922 (2) (see all 86)

About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/316 PubMed articles for EWSR1 gene (see all 316 ):

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. (PubMed id 1522903)^{2, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Hallor K.H....Panagopoulos I. (2005)
Exposure on cell surface and extensive arginine methylation of Ewing sarcoma (EWS) protein. (PubMed id 11278906)^{1, 3, 4} Belyanskaya L.L.... Gehring H. (2001)
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. (PubMed id 17724745)^{3, 4} Antonescu C.R....Ladanyi M. (2007)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for EWSR1	Genetics and Cytogenetics in Oncology and Haematology

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EWSR1 Gene

protein-coding GIFtS: 60

Aliases &
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EWSR1 Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor EWSR1

Summariesfor EWSR1

Genomic Locationfor EWSR1

Proteinsfor EWSR1

Protein Domains/Familiesfor EWSR1

Gene Functionfor EWSR1

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Publicationsfor EWSR1

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Genome Databases showing EWSR1

Other Databases showing EWSR1

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Licensable Technologiesfor EWSR1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EWSR1

Summaries
for EWSR1

Genomic Location
for EWSR1

Proteins
for EWSR1

Protein Domains/
Families
for EWSR1

Gene Function
for EWSR1

Pathways & Interactions
for EWSR1

Drugs & Compounds
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Transcripts
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Expression
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