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EWSR1 (Ewing sarcoma breakpoint region 1)

Written2010-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
This article is an update of :
1998-04Francine Mugneret
Laboratoire de Cytogénétique, CHU Le Bocage, BP 77908, 21079 Dijon Cedex, France

(Note : for Links provided by Atlas : click)


HGNC Alias symbEWS
HGNC Previous nameEwing sarcoma breakpoint region 1
LocusID (NCBI) 2130
Atlas_Id 85
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29268268 and ends at 29300521 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping EWSR1.png]
  t(21;22)(q22;q12) R-banding - Courtesy Francine Mugneret
  t(11;22)(q24;q12) FISH with a double color EWSR1 probe - Courtesy Francine Mugneret
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATF1 (12q13.12)::EWSR1 (22q12.2)CD99 (Xp22.33)::EWSR1 (22q12.2)CREB1 (2q33.3)::EWSR1 (22q12.2)
CRTC1 (19p13.11)::EWSR1 (22q12.2)DDIT3 (12q13.3)::EWSR1 (22q12.2)ERG (21q22.2)::EWSR1 (22q12.2)
ETS1 (11q24.3)::EWSR1 (22q12.2)ETV1 (7p21.2)::EWSR1 (22q12.2)ETV4 (17q21.31)::EWSR1 (22q12.2)
EWSR1 (22q12.2)::ABR (17p13.3)EWSR1 (22q12.2)::ATF1 (12q13.12)EWSR1 (22q12.2)::ATP1A1 (1p13.1)
EWSR1 (22q12.2)::BEND2 (Xp22.13)EWSR1 (22q12.2)::CHN1 (2q31.1)EWSR1 (22q12.2)::CPED1 (7q31.31)
EWSR1 (22q12.2)::CREB1 (2q33.3)EWSR1 (22q12.2)::CREB3L1 (11p11.2)EWSR1 (22q12.2)::CREB3L2 (7q33)
EWSR1 (22q12.2)::CREM (10p11.21)EWSR1 (22q12.2)::DDIT3 (12q13.3)EWSR1 (22q12.2)::ERG (21q22.2)
EWSR1 (22q12.2)::ETS1 (11q24.3)EWSR1 (22q12.2)::ETV1 (7p21.2)EWSR1 (22q12.2)::ETV4 (17q21.31)
EWSR1 (22q12.2)::EWSR1 (22q12.2)EWSR1 (22q12.2)::FEV (2q35)EWSR1 (22q12.2)::FLI1 (11q24.3)
EWSR1 (22q12.2)::FLII (17p11.2)EWSR1 (22q12.2)::GDNF (5p13.2)EWSR1 (22q12.2)::KLF15 (3q21.3)
EWSR1 (22q12.2)::KLF17 (1p34.1)EWSR1 (22q12.2)::MARS (12q13.3)EWSR1 (22q12.2)::MED15 (22q11.21)
EWSR1 (22q12.2)::NF2 (22q12.2)EWSR1 (22q12.2)::NFATC1 (18q23)EWSR1 (22q12.2)::NFATC2 (20q13.2)
EWSR1 (22q12.2)::NR4A3 (9q22.33)EWSR1 (22q12.2)::NR4A3 (9q31.1)EWSR1 (22q12.2)::OSCP1 (1p34.3)
EWSR1 (22q12.2)::PATZ1 (22q12.2)EWSR1 (22q12.2)::PBX1 (1q23.3)EWSR1 (22q12.2)::PBX3 (9q33.3)
EWSR1 (22q12.2)::POU5F1 (6p21.33)EWSR1 (22q12.2)::SMARCA5 (4q31.21)EWSR1 (22q12.2)::SP3 (2q31.1)
EWSR1 (22q12.2)::WT1 (11p13)EWSR1 (22q12.2)::YY1 (14q32.2)EWSR1 (22q12.2)::ZNF384 (12p13.31)
EWSR1 (22q12.2)::ZNF444 (19q13.43)FEV (2q35)::EWSR1 (22q12.2)FLI1 (11q24.3)::EWSR1 (22q12.2)
FLII (17p11.2)::EWSR1 (22q12.2)GDNF (5p13.2)::EWSR1 (22q12.2)NFATC1 (18q23)::EWSR1 (22q12.2)
NFATC2 (20q13.2)::EWSR1 (22q12.2)NR4A3 (9q22.33)::EWSR1 (22q12.2)NR4A3 (9q31.1)::EWSR1 (22q12.2)
OSCP1 (1p34.3)::EWSR1 (22q12.2)PATZ1 (22q12.2)::EWSR1 (22q12.2)PBX1 (1q23.3)::EWSR1 (22q12.2)
POU5F1 (6p21.33)::EWSR1 (22q12.2)WT1 (11p13)::EWSR1 (22q12.2)YY1 (14q32.2)::EWSR1 (22q12.2)
ZNF384 (12p13.31)::EWSR1 (22q12.2)


Description Spans 32.5 kb, in a centromere to telomere direction on plus strand; transcript of 2654 bp from 17 exons for the canonical form, with a coding sequence of 1971 nt.
Transcription According to Ensembl, there are 25 transcripts, of which 16 different transcripts code for proteins.


Description 656 amino acids for the canonical form identified in 1993 (Plougastel et al., 1993), 68.5 kDa. From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats (consensus SYGQQS) (glycine, glutamine, serine, tyrosine rich or SYGQ rich, where the tyrosine is mandatory): amino acids 1 to 285, with a site interacting with SF1 from aa 228 to 264 and an IQ domain, which binds calmodulin (aa 256-285), 3 arginine/glycine rich domains (RGG regions) (aa 300-340, 454-513 (arginine/glycine/proline rich), and aa 559-640), a RNA recognition motif (RRM or RNA-binding domain (RBD): aa 361-447), and a RanBP2 type Zinc finger (aa 518-549).
  Uniform small round cells with fine chromatin and pale eosinophilic cytoplasm (left); transmembrane glycoprotein MIC2/CD99 (right) - Courtesy Francine Mugneret
Expression EWSR1 is ubiquitely expressed (Alliegro and Alliegro, 1996; Andersson et al., 2008). In particular, EWSR1 is required for cell survival in the central nervous system (Azuma et al., 2007).
Localisation Mainly in the nucleus. It has also been found in the cytoplasm, and associated with the plasma membrane. Expression of EWSR1 in the various subcellular compartments is affected by the methylation state of its RNA-binding domain (Belyanskaya et al., 2003).
EWSR1 is mainly found in the nucleus, and more rarely in the cytoplasm than its two homologs FUS and TAF15; the 3 proteins participate in nucleo-cytoplasmic shutlling; EWSR1 localized poorly in stress granules when cells were exposed to environmental stress (stress granules are cytoplasmic particles composed of translation pre-initiation complexes, mRNAs and RNA-binding proteins) (Andersson et al., 2008), in Cajal bodies, and nucloli. Localization of EWSR1 in different subcellular compartments reflects a dynamic distribution during cell cycle: predominant nuclear localization in interphase cells, perichromosomal localization in prometaphase cells, and cytoplasmic localization in metaphase cells, association with microtubules in quiescent cells (Leemann-Zakaryan et al., 2009).
Function RNA binding protein, single strand DNA binding.
Role in transcriptional regulation for specific genes and in mRNA splicing: Transcription and pre-mRNA slicing, a post-transcriptional activity, are closely related.
EWSR1 plays a role in transcription initiation: EWSR1 is able to associate with the basal transcription factor TFIID (a multiprotein complex composed of the TATA-binding protein (TBP) and TBP-associated factors (TAFIIs)) and the RNA polymerase II complex. EWSR1 acts as a transcriptional activator (Bertolotti et al., 1998). It associates with heterogeneous RNA-binding proteins (hnRNPs), such as RBM38 and RBM39 (RNA binding motif proteins 38 and 39, 20q13 and 20q11 respectively) (Zinszner et al., 1994).
EWSR1 associates with EP300 and CREBBP. EWSR1 functions as a co-activator of CREBBP-dependent transcription factors. EWSR1-EP300/CREBBP mediates FOS activation, as well as HNF4 genes activation (Rossow and Janknecht, 2001; Araya et al., 2003). CREBBP is a transcription co-activator which enables the interaction between various transcription factors and RNA Pol II, brings enzymes to the promoter, and remodels the chromatin favouring the open status (Gervasini, 2009).
EWSR1 also activates other transcription factors such as POU4F1 (or BRN3A, 13q13) (Gascoyne et al., 2004), POU5F1 (or OCT4, 6p21) (Lee et al., 2005).
SF1 (splicing factor 1, 11q13, also called ZFM1) represses the transactivation domain of EWSR1; SF1, a transcription activator or repressor involved with many pathways, may negatively modulate transcription of target genes coordinated by EWSR1 (Zhang et al., 1998).
EWS functions as a docking molecule by recruiting serine-arginine (SR) splicing factors such as SRSF10 (serine/arginine-rich splicing factor 10, 1p36, or TASR, which represses pre-mRNA splicing) to RNA Pol II, coupling gene transcription to RNA splicing by binding to hyperphosphorylated RNA Pol II through its N-term part domain, and SR splicing factors through its C-term domain (Yang et al., 2000).
YBX1 (Y box binding protein 1, 1p34), a multifunctional protein that shuttles between the cytoplasm (where it binds to mRNA and regulates mRNA translation) and the nucleus (where it regulates transcription of diverse target genes), interacts with the C-term domain of EWS. This interaction docks YBX1 to RNA Pol II to participate in pre-mRNA splicing (Chansky et al., 2001).
SMN1 (survival of motor neuron 1, telomeric, 5q13) plays a major role in the pre-mRNA splicing machinery (role in spliceosomal snRNP assembly in the cytoplasm and in pre-mRNA splicing in the nucleus) (Pellizzoni et al., 1998). SMN1, through its Tudor region, binds the RG1 region of EWSR1 (Young et al., 2003).
RNU1-2 (RNA, U1 small nuclear 2, 1p36, also called U1C), another splicing protein, also interacts with EWSR1 (Knoop and Baker, 2000).
EWSR1 is phosphorylated by PRKC (protein kinase C) though its IQ domain, which inhibits RNA binding of EWSR1; CALM (calmodulin) binding to EWSR1 inhibits PRKC phosphorylation (Deloulme et al., 1997).
EWSR1 interacts with POU4F2 (4q31), a gene which regulates differentiation of neuronal cells (Gascoyne et al., 2004). EWSR1 interacts with LMNA (lamin A/C, 1q22, a component of the nuclear envelope which interacts with DNA, histones and transcriptional repressors) is essential for pre-B lymphocyte development and, during meiosis, in XY pairing and in meiotic recombination, as cross-overs are reduced in ews-/- spermatocytes. Loss of EWSR1 results in premature cellular senescence (Li et al., 2007). EWSR1 is required for proper localization of aurora B during mitosis, and maintains mitotic spindle integrity (Azuma et al., 2007).
It also interacts with BARD1 (BRCA1 associated RING domain 1) (Spahn et al., 2002).
EWSR1 and CCNL1 (cyclin L1, 3q25), are interacting partners of TFIP11 (tuftelin-interacting protein 11, 22q12), a protein functionally related to the spliceosome and involved in pre-mRNA splicing) (Tannukit et al., 2008).
Homology Member of the TET family of RNA binding proteins, with FUS (TLS) and TAF15 (TAFII68). TET is for Tls, Ewsr1, TafII68). TET proteins contain specific structural domains not found elsewhere in other RNA binding proteins, i.e. a N-term SYGQ rich (TAD: transactivation domain), a conserved RNA-binding domain (RRM: RNA recognition motif), RG rich regions, and a Cys2-Cys2 Zinc finger which can bind nucleic acids; they are also functionally related (reviews in Law et al., 2006; Tan and Manley, 2009).

Implicated in

Entity Various tumours (see details below)
Entity Ewing's sarcoma/Peripheral neurectodermal tumour (ES/PNET)
Note - With: --> FLI1 - EWSR1 (Delattre et al., 1992; Bailly et al., 1994; Thomas et al., 1994; records in the Mitelman Database).
- With: --> FEV - EWSR1 (Llombart-Bosch et al., 2000; Peter et al., 2001; Navarro et al., 2002; Hattinger et al., 1999; Wang et al., 2007).
- With: --> ETV1 - EWSR1 (Jeon et al., 1995; Peter et al., 2001; Zielenska et al., 2001; Wang et al., 2007).
- With: --> ETV4 - EWSR1 (Kaneko et al., 1996; Urano et al., 1996; Urano et al., 1998).
- With: --> NFATC2 - EWSR1 (Szuhai et al., 2009).
- With: --> ERG - EWSR1 (Dunn et al., 1994; Giovannini et al., 1994; Kaneko et al., 1997; Maire et al., 2008; Minoletti et al., 1998; Sorensen et al., 1994; Zoubek et al., 1994; Zucman et al., 1993b; Shing et al., 2003; Peter et al., 1996).
- With: --> PATZ1 - EWSR1 (Mastrangelo et al., 2000)
Note: Rare cases of ES/PNET have been described without EWSR1 involvement, but, instead:
- with: --> FUS - FEV (Navarro et al., 2002) or,
- with: --> FUS - ERG (Shing et al., 2003; Berg et al., 2009). To be noted that the same has been found in rare cases of acute myeloid leukaemia.
A t(11;22)(q24;q12) has also been found in a case of cerebellar PNET (Jay et al., 1996).
Disease Ewing's sarcoma/Peripheral neurectodermal tumour spectrum is a group of sarcomas with small blue round cells with more (PNET side) or less (Ewing side) features of neuroectodermal differentiation. ES/PNET entity also includes peripheral neuroepithelioma and Askin tumour. These tumours display both mesenchymal stem cell and neural crest stem cell properties. It is mainly found in adolescents and young adults. Cytogenetics and immunochemistry are essential for the differential diagnosis with other sarcomas (review in Romeo and Dei Tos, 2010).
Prognosis Prognosis has dramatically improved, from less than 10% of long survivors, to a 5-year disease free survival of 75% for patients with a localized disease, and 25-30% for those with a metastatic disease (Ludwig, 2008).
Cytogenetics The t(11;22)(q24;q12) EWSR1/FLI1 is found in 85% of cases of Ewing tumours. The t(21;22)(q21;q12) with EWSR1/ERG is the second in frequency, found in about 10% of cases.
Hybrid/Mutated Gene t(11;22)(q24;q12): 5' EWSR1 - 3' FLI1; breakpoints clustered over a 2-3 kb genomic region and over a 30-40 kb genomic region. Various junctions between EWSR1 exon 7 or 10 with FLI1 exon 5, 6, or 8. In the most common fusion type (type 1), EWSR1 exon 7 is fused in frame to FLI1 exon 6; in type 2, EWSR1 exon 7 is fused in frame to FLI1 exon 5. (Obata et al., 1999; de Alava et al., 1998).
t(21;22)(q21;q12): 5' EWSR1 - 3' ERG; the orientation of the ERG gene is from telomere to centromere, opposite to that demonstrated for EWSR1.
Other translocations: 5' EWSR1 - 3' FEV; 5' EWSR1 - 3' ETV1; 5' EWSR1 - 3' ETV4; 5' EWSR1 - 3' NFATC2; 5' EWSR1 - 3' PATZ1.
Abnormal Protein t(11;22)(q24;q12): oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWSR1 protein (transactivation domain, e.g. fusion of EWSR1 amino acids 1-265) with the DNA binding domain (ETS type, amino acids 281-361) of the human FLI1 protein, a 452 amino acids protein (e.g. fusion from amino acids 260).
t(21;22)(q21;q12): oncogenic protein on the der(22) chromosome generated by fusion of the N terminal domain of EWSR1 protein with DNA binding domain of human ERG protein.
Other translocations: Most of the EWSR1 partners in ES/PNET are ETS family members (FLI1, ERG, ETV1, ETV4, FEV) and translocation results in the juxtaposition of the transactivation domain of EWSR1 with the DNA binding domain -ETS type of the partner. PATZ1 is a transcription regulator with a AT hook (DNA-binding motif), a POZ domain (mediates dimerisation) and Zn fingers (DNA-binding). NFATC2 is a cytokine inducer; translocates into the nucleus to regulate transcription.
Oncogenesis EWSR1-FLI1 is a dominant oncogene transformed cells by subverting normal transcriptional controls/FLI1 member of ETS family. The target gene repertoire of EWSR1-FLI1 varies according to the host cell type. EWSR1-FLI1 induces a TP53-dependent growth arrest in fibroblasts, supporting the importance of TP53 loss in the genesis of Ewing's tumours (Lessnick et al., 2002). EWSR1-FLI1 activates CASP3 and promotes apoptosis in mouse embryonic fibroblasts (Sohn et al., 2010). EWSR1-FLI1 induces expression of the embryonic stem cell genes OCT4, SOX2, and NANOG in paediatric mesenchymal stem cells but not in adult mesenchymal stem cells. SOX2 is a target for EWSR1-FLI1 and miRNA145 and may be critical in Ewing sarcoma pathogenesis (Riggi et al., 2010). EWSR1-FLI1 expression in a rhabdomyosarcoma cell line induced upregulation of many genes involved in neural crest differentiation, and the cell phenotype was modified, resembling ewing tumour cells (Hu-Lieskovan et al., 2005; Riggi et al., 2008). EZH2 is a target of EWSR1-FLI1. EZH2 regulates stemness and genes involved in neuroectodermal and endothelial differentiation (Richter et al., 2009). EWSR1-FLI1 induced T-cell neoplasia in committed lymphoid cells, showing that the oncogenetic potential of EWSR1-FLI1 is not restricted to pluripotent progenitors or mesenchymal cells (Codrington et al., 2005). EWSR1-FLI1 in transgenic mouse induced limb developmental defects by disruption of the normal development of connective tissues; homozygous deletion of p53 in mice provoke sarcomas, in particular osteosarcomas, introduction of EWSR1-FLI1 changed the tumour phenotype from osteosarcomas to poorly differentiated sarcomas (Lin et al., 2008). It is believed that EW/PNET arise from mesenchymal stem cells in which terminal differentiation is blocked by EWSR1-FLI1 (Tirode et al., 2007).
Transcriptional repressors such as NKX2-2 (Smith et al., 2006) or NR0B1 are induced by EWSR1-FLI1. Furthermore, EWSR1-FLI and NR0B1 physically interact (Kinsey et al., 2009). The transcriptional complex of EWSR1-FLI1 includes RNA polymerase II, CREB1 (cAMP responsive element binding protein 1) and DHX9 (RHA, RNA helicase A) (Toretsky et al., 2006; Erkizan et al., 2009). EWSR1-Ets proteins cooperatively bind DNA with FOS-JUN (Kim et al., 2006). EWSR1-FLI1 is involved in the spliceosome (review in Erkizan et al., 2010). EWSR1-FLI1 chimeric protein, but not wild EWSR1, can oppose the change in splicing pattern induced by expression of hnRNPA1 (Knoop and Baker, 2001).
EWSR1-FLI1 (dis)regulates many pathways (Jedlicka, 2010). CD99, a transmembrane protein highly expressed in Ewing sarcoma cells, has a key role in various biological functions, including inhibition of neuronal differentiation that may occur through the RAS/RAF/MAPK pathway in Ewing's tumours (Rocchi et al., 2010). PDGFC (Zwerner and May, 2001) as well as IGF1 are induced by EWSR1-FLI1, and also by EWSR1-ERG or FUS-ERG (Cironi et al., 2008). GLI1 is upregulated by EWSR1-FLI1, independently of the Hedgehog pathway (Beauchamp et al., 2009; Joo et al., 2009). Expression of DKK1 (which antagonizes Wnt signaling) is inhibited by EWSR1-FLI1 (Navarro et al., 2010), and DKK2 enhanced (Miyagawa et al., 2009). TGFbR2 is inhibited by EWSR1-FLI1 (Hahm, 1999).
Other features were summarized in Janknecht et al., 2005: EWSR1-FLI1 induces proliferation independent of exogenous growth factors (EWSR1-ETS proteins upregulate PDGFC and also CCND1), evasion of growth inhibition (downregulation of TGFbR2 may help cells escape growth surveillance), suppression of differentiation (ID2, overexpressed in Ewing tumours, is able to suppress differentiation of a variety of cells), immortality (hTERT (human telomerase reverse transcriptase)), limiting factor for telomerase activity and senescence, is upregulated by EWSR1-ETS fusion proteins), escape from apoptosis (EWSR1-FLI1 was shown to repress IGFBP-3, preventing apoptosis) (Janknecht et al., 2005).
Entity Desmoplastic small round cell sarcoma (DSRCT)
Note - With: --> WT1 - EWSR1 (Ladanyi and Gerald, 1994; Gerald et al., 1995; Benjamin et al., 1996; records in the Mitelman Database).
- With: --> ERG - EWSR1 (Ordi et al., 1998).
Disease Desmoplastic small round cell sarcoma is a small blue round cells tumour, often intra-abdominal, with a male predominance, arising in children and young adults, with a very poor prognosis. Cytogenetics and immunochemistry are essential for the differential diagnosis with other sarcomas with small blue round cells.
Cytogenetics Most of the cases are cases of t(11;22)(p13;q12).
Hybrid/Mutated Gene t(11;22)(p13;q12): 5' EWSR1 - 3' WT1; breakpoints: between EWSR1 exons 7 and 8 and between WT1 exons 7 and 8.
t(21;22)(q21;q12): 5' EWSR1 - 3' ERG.
t(11;22)(q24;q12) G-banding (left) and R-banding (right) - Courtesy Francine Mugneret
Abnormal Protein Transcription activator.
Oncogenesis N terminal domain of EWSR1 fused to the Zn fingers of WT1.
Entity Clear cell sarcoma of soft parts/malignant melanoma of soft parts (CCSSP)
Note - With: --> CREB1 - EWSR1 (Antonescu et al., 2006; Wang et al., 2009).
- With: --> ATF1 - EWSR1 (Zucman et al., 1993a; records in the Mitelman Database).
Disease Clear cell sarcoma of tendons and aponeuroses affects young adults. It is characterized by slow progression, with recurrences and metastases, with only 40-50% long survivors.
Hybrid/Mutated Gene 5' EWSR1 - 3' ATF1 (t(12;22)(q13;q12) cases) or, more rarely, 5' EWSR1 - 3' CREB1 (t(2;22)(q33;q12) cases).
Abnormal Protein N terminal domain of EWSR1 fused to the bZIP domain of CREB1 or ATF1.
Entity Angiomatoid fibrous histiocytoma (AFH)
Note - With: --> CREB1 - EWSR1 (Antonescu et al., 2007; Shao et al., 2009; Rossi et al., 2007).
- With: --> ATF1 - EWSR1 (Dunham et al., 2008; Hallor et al., 2005; Hallor et al., 2007; Rossi et al., 2007; Tanas et al., 2010).
Note: Cases of with 5' FUS - 3' ATF1 have also been described (Raddaoui et al., 2002; Waters et al., 2000).
Disease Angiomatoid fibrous histiocytoma is a rare soft-tissue tumour of low metastatic potential (local recurrence below 15% of cases, and metastases occur in less than 2% of patients); it is mostly found in children and young adults. Surgical excision is the treatment of choice.
Hybrid/Mutated Gene 5' EWSR1 - 3' ATF1 (t(12;22)(q13;q12) cases), or 5' EWSR1 - 3' CREB1 (t(2;22)(q33;q12) cases).
Abnormal Protein N terminal domain of EWSR1 fused to the bZIP domain of ATF1 or CREB1.
Entity Extraskeletal myxoid chondrosarcoma (EMCS)
Disease Extra-skeletal myxoid chondrosarcomas represent about 5% of chondrosarcomas. There is male predominance. It affects adults mainly, in the forties or the fifties. The estimated 5-, 10-, and 15-year survival rates were 90%, 70%, and 60%, respectively (Meis-Kindblom et al., 1999).
Cytogenetics t(9;22)(q22;q12) --> NR4A3 - EWSR1 (Labelle et al., 1995; Brody et al., 1997).
Note: Cases of t(3;9)(q12;q31) --> NR4A3 - TFG (Hisaoka et al., 2004), t(9;15)(q31;q21) --> NR4A3 - TCF12 (Sjögren et al., 2000), t(9;17)(q22;q11) --> NR4A3 - TAF15 (Sjögren et al., 1999; Attwooll et al., 1999; records in the Mitelman Database) have also been reported.
Hybrid/Mutated Gene 5' EWSR1 - 3' NR4A3 (NR4A3 is also known as TEC or CHN).
Entity Myxoid liposarcoma/round cell liposarcoma (MLS)
Disease Myxoid liposarcoma is the most frequent type of liposarcoma, found in about half of the cases. It occurs in male and female patients equally, in their thirties to fifties. It has a relatively favorable prognosis; the variant round cell liposarcoma is much more aggressive.
Cytogenetics A t(12;22)(q13;q12) --> DDIT3 - EWSR1 (Panagopoulos et al., 1994) is found in 5% of cases, whereas a t(12;16)(q13;p11) is found in most cases.
Hybrid/Mutated Gene 5' EWSR1 - 3' DDIT3 (also called CHOP). The t(12;16)(q13;p11) with 5' FUS - 3' DDIT3 is more frequent.
Abnormal Protein Fuses the N-term transactivation domain of EWSR1 with the bZIP domain of DDIT3.
Entity Acute leukaemia
Disease Acute lymphoblastic leukaemia (B-cell ALL), biphenotypic leukaemia
Cytogenetics A was found in 2 cases (Martini et al., 2002). Note: the equivalent --> TAF15 - ZNF384 has also been found in other cases of the same series.
Hybrid/Mutated Gene 5' EWSR1 - 3' ZNF384.
Abnormal Protein Fuses the N-term transactivation domain of EWSR1 with the leucine-serine rich-proline-nuclear localization signal-Kruppel-type C2H2 Zinc finger domains of ZNF384.
Note EWSR1 involvement has also been described in a number of other tumours. In some instances, the diagnosis is unambiguous; in other cases, pathological diagnoses are difficult to reach, when the tumour is undifferentiated or polyphenotypic.
Entity Rhabdomyosarcoma (RMS)
Disease Rhabdomyosarcomas, the most common pediatric soft tissue sarcomas, are tumours related to the skeletal muscle lineage. The 2 major subtypes are alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS). Most ARMS cases are characterised by either a , resulting in a PAX3 - FOXO1 hybrid gene, or a resulting in a PAX7 - FOXO1 hybrid gene (Reichek and Barr, 2009). However, 4 cases of RMS have been described, instead, with an EWSR1 rearrangement.
Cytogenetics A was found in a case of embryonal rhabdomyosarcoma (Sirvent et al., 2009), and a t(11;22)(q24;q12) in the other cases (Sorensen et al., 1993; Thorner et al., 1996).
Hybrid/Mutated Gene 5' EWSR1 - 3' DUX4 in the t(4;22)(q35;q12) case, and 5' EWSR1 - 3' FLI1 in the t(11;22) cases.
Entity Giant cell tumour of bone
Disease Locally destructive tumour, usually seen in patients over 20 years of age, with good prognosis, despite of recurrences and pulmonary metastases (Forsyth and Hogendoorn, 2003).
Cytogenetics In giant-cell tumour of bone, the most frequent finding is telomeric association. One study showed that a very minor clone with EWSR1/FLI1 translocation could be detected in most of the cases studied (Scotlandi et al., 2000).
Hybrid/Mutated Gene 5' EWSR1 - 3' FLI1.
Entity Myoepithelioma/myoepithelial carcinoma of soft parts
Disease Myoepithelioma tumours of soft tissue cover a wide range of tumours of various behaviour. While most are of intermediate aggressivity, some metastase.
Cytogenetics in one case (Brandal et al., 2008), in another case (Brandal et al., 2009).
Hybrid/Mutated Gene 5 ' EWSR1 - 3' PBX1, which fuses exons 8 from EWSR1 to exons 5 of PBX1 in the most benign case; 5' EWSR1- 3' ZNF444 in the malignant case; fuses EWSR1 exon 8 to the very near end of ZNF444.
Entity Hidradenoma of the skin
Disease Hidradenoma or eccrine/apocrine acrospiroma, is a benign adnexal tumour developing most often in adults. 3 cases were found with a and/or its fusion transcript equivalent (Möller et al., 2008).
Abnormal Protein 5' EWSR1 - 3' POU5F1.
Entity Mucoepidermoid carcinoma of the salivary glands
Disease Mucoepidermoid carcinoma is the most common type of malignant salivary gland tumour, often associated with a translocation with expression of chimeric genes 5' CRTC1 - 3' MAML2. One case of mucoepidermoid carcinoma was found with a (Möller et al., 2008).
Abnormal Protein 5' EWSR1 - 3' POU5F1.
Entity Neuroblastoma
Disease Neuroblastomas are peripheral neuroblastic tumours derived from cells of the sympathetic nervous system. They occur mainly in infants and young children, with a median age of 1.5 years.
Hybrid/Mutated Gene Two patients, aged 3 years and 5.5 years, were described with a 5' EWSR1 - 3' FLI1 transcript in typical neuroblastomas with elevated urinary catecholamines. Prognosis had been very poor: the two patients relapsed during -or at the end of- treatment and died within 2 months (Burchill et al., 1997).
Entity Olfactory neuroblastoma
Disease Olfactory neuroblastoma or esthesioneuroblastoma, is a malignant neurectodermal tumour, from the olfactory neuroepithelium that typically occurs in the superior nasal cavity. It is keratin negative, neuroendocrine marker positive, and S100 positive. It arises at any age, often in the adult, with a 5-year survival rate above 50% (the 5-year overall survival for patients treated for nonmetastatic olfactory neuroblastoma was recently found at 64% (Ozsahin et al., 2010)).
Cytogenetics t(11;22)(q24;q12), inducing a 5' EWSR1 - 3' FLI1 hybrid gene (Sorensen et al., 1996). However, recent review rejects cases with EWSR1 involvement, as being misdiagnosed cases of ES/PNET (Thompson, 2009).
Entity Solid pseudopapillary tumour of the pancreas (SPTP)
Disease Solid pseudopapillary tumour of the pancreas is a rare epithelial tumour, typically occuring in young female patients, rarely metastasizing (Yu et al., 2010).
Cytogenetics One case showed a (Maitra et al., 2000)
Hybrid/Mutated Gene 5' EWSR1 - 3' FLI1.
Entity "Small round cell tumours", "polyphenotypic mesenchymal malignancies", and "undifferentiated sarcomas"
Disease An undifferentiated sarcoma derived from pelvic bone exhibited a t(6;22)(p21;q12) with 5' EWSR1 - 3' POU5F1. This resulted in the fusion of exons 1-6 of EWSR1 and exons 2-5 and a part of exon 1 of POU5F1.The patient died 6 months after diagnosis (Yamaguchi et al., 2005).
A small round cell tumour was found to have a , with 5' EWSR1 - 3' SP3 hybrid gene; fuses the exon 7 of EWSR1 to exon 6 of SP3. N-term transactivation domain of EWSR1 fused with the Zinc fingers of SP3. The patient died 20 months after diagnosis (Wang et al., 2007).
Other cases of spindle cell tumours, small round cell poorly differentiated, biphenotypic (myogenic/neural differentiation), or polyphenotypic sarcomas present with the classical t(11;22)(q24;q12) / 5' EWSR1 - 3' FLI1 or other variants, such as the t(2;22)(q36;q12) / 5' EWSR1 - 3' FEV (Wang et al., 2007), the t(11;22)(p13;q12) / 5' EWSR1 - 3' WT1 (Alaggio et al., 2007), the t(12;22)(q13;q12) / 5' EWSR1 - 3' ATF1 (Somers et al., 2005), or the t(21;22)(q21;q12) / 5' EWSR1 - 3' ERG (Tan et al., 2001).


Note Clustered over a 2.3 kb genomic region.


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Cancer Genet Cytogenet. 2009 Nov;195(1):12-8.
PMID 19837262
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
Sjogren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G.
Cancer Res. 1999 Oct 15;59(20):5064-7.
PMID 10537274
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).
Sjogren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G.
Cancer Res. 2000 Dec 15;60(24):6832-5.
PMID 11156374
Expression profiling of EWS/FLI identifies NKX2.2 as a critical target gene in Ewing's sarcoma.
Smith R, Owen LA, Trem DJ, Wong JS, Whangbo JS, Golub TR, Lessnick SL.
Cancer Cell. 2006 May;9(5):405-16. Erratum in: Cancer Cell. 2007 Jan;11(1):97.
PMID 16697960
EWS/FLI1 oncogene activates caspase 3 transcription and triggers apoptosis in vivo.
Sohn EJ, Li H, Reidy K, Beers LF, Christensen BL, Lee SB.
Cancer Res. 2010 Feb 1;70(3):1154-63. Epub 2010 Jan 26.
PMID 20103643
Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report.
Somers GR, Viero S, Nathan PC, Teshima I, Pereira C, Zielenska M.
Am J Surg Pathol. 2005 Dec;29(12):1673-9.
PMID 16327442
Olfactory neuroblastoma is a peripheral primitive neuroectodermal tumor related to Ewing sarcoma.
Sorensen PH, Wu JK, Berean KW, Lim JF, Donn W, Frierson HF, Reynolds CP, Lopez-Terrada D, Triche TJ.
Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1038-43.
PMID 8577710
Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway.
Spahn L, Petermann R, Siligan C, Schmid JA, Aryee DN, Kovar H.
Cancer Res. 2002 Aug 15;62(16):4583-7.
PMID 12183411
The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology.
Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PC.
Clin Cancer Res. 2009 Apr 1;15(7):2259-68. Epub 2009 Mar 24.
PMID 19318479
The TET family of proteins: functions and roles in disease.
Tan AY, Manley JL.
J Mol Cell Biol. 2009 Dec;1(2):82-92. Epub 2009 Sep 24. (REVIEW)
PMID 19783543
Small round cell tumor with biphenotypic differentiation and variant of t(21;22)(q22;q12).
Tan SY, Burchill S, Brownhill SC, Gerrard MP, Watmore A, Wagner BE, Variend S.
Pediatr Dev Pathol. 2001 Jul-Aug;4(4):391-6.
PMID 11441341
Utility of FISH in the diagnosis of angiomatoid fibrous histiocytoma: a series of 18 cases.
Tanas MR, Rubin BP, Montgomery EA, Turner SL, Cook JR, Tubbs RR, Billings SD, Goldblum JR.
Mod Pathol. 2010 Jan;23(1):93-7. Epub 2009 Oct 2.
PMID 19801966
TFIP11, CCNL1 and EWSR1 Protein-protein Interactions, and Their Nuclear Localization.
Tannukit S, Wen X, Wang H, Paine ML.
Int J Mol Sci. 2008;9(8):1504-1514.
PMID 19122807
Genetic alterations in the chromosome 22q12 region associated with development of neuroectodermal tumors.
Thomas G, Delattre O, Zucman J, Merel P, Desmaze C, Melot T, Sanson M, Hoang-Xuan K, Plougastel B, Dejong P, et al.
Cold Spring Harb Symp Quant Biol. 1994;59:555-64.
PMID 7587112
Olfactory neuroblastoma.
Thompson LD.
Head Neck Pathol. 2009 Sep;3(3):252-9. Epub 2009 Jul 16. (REVIEW)
PMID 20596981
Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types.
Thorner P, Squire J, Chilton-MacNeil S, Marrano P, Bayani J, Malkin D, Greenberg M, Lorenzana A, Zielenska M.
Am J Pathol. 1996 Apr;148(4):1125-38.
PMID 8644855
Mesenchymal stem cell features of Ewing tumors.
Tirode F, Laud-Duval K, Prieur A, Delorme B, Charbord P, Delattre O.
Cancer Cell. 2007 May;11(5):421-9.
PMID 17482132
Oncoprotein EWS-FLI1 activity is enhanced by RNA helicase A.
Toretsky JA, Erkizan V, Levenson A, Abaan OD, Parvin JD, Cripe TP, Rice AM, Lee SB, Uren A.
Cancer Res. 2006 Jun 1;66(11):5574-81.
PMID 16740692
Molecular analysis of Ewing's sarcoma: another fusion gene, EWS-E1AF, available for diagnosis.
Urano F, Umezawa A, Yabe H, Hong W, Yoshida K, Fujinaga K, Hata J.
Jpn J Cancer Res. 1998 Jul;89(7):703-11.
PMID 9738976
Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions.
Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, Ladanyi M.
J Mol Diagn. 2007 Sep;9(4):498-509. Epub 2007 Aug 9.
PMID 17690209
Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts in clear cell sarcoma (melanoma of soft parts).
Wang WL, Mayordomo E, Zhang W, Hernandez VS, Tuvin D, Garcia L, Lev DC, Lazar AJ, Lopez-Terrada D.
Mod Pathol. 2009 Sep;22(9):1201-9. Epub 2009 Jun 26.
PMID 19561568
Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11.
Waters BL, Panagopoulos I, Allen EF.
Cancer Genet Cytogenet. 2000 Sep;121(2):109-16.
PMID 11063792
EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).
Yamaguchi S, Yamazaki Y, Ishikawa Y, Kawaguchi N, Mukai H, Nakamura T.
Genes Chromosomes Cancer. 2005 Jun;43(2):217-22.
PMID 15729702
EWS.Fli-1 fusion protein interacts with hyperphosphorylated RNA polymerase II and interferes with serine-arginine protein-mediated RNA splicing.
Yang L, Chansky HA, Hickstein DD.
J Biol Chem. 2000 Dec 1;275(48):37612-8.
PMID 10982800
The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein.
Young PJ, Francis JW, Lince D, Coon K, Androphy EJ, Lorson CL.
Brain Res Mol Brain Res. 2003 Nov 6;119(1):37-49.
PMID 14597228
Solid pseudopapillary tumor of the pancreas: a review of 553 cases in Chinese literature.
Yu PF, Hu ZH, Wang XB, Guo JM, Cheng XD, Zhang YL, Xu Q.
World J Gastroenterol. 2010 Mar 14;16(10):1209-14. (REVIEW)
PMID 20222163
The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription.
Zhang D, Paley AJ, Childs G.
J Biol Chem. 1998 Jul 17;273(29):18086-91.
PMID 9660765
Acquisition of secondary structural chromosomal changes in pediatric ewing sarcoma is a probable prognostic factor for tumor response and clinical outcome.
Zielenska M, Zhang ZM, Ng K, Marrano P, Bayani J, Ramirez OC, Sorensen P, Thorner P, Greenberg M, Squire JA.
Cancer. 2001 Jun 1;91(11):2156-64.
PMID 11391597
A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP.
Zinszner H, Albalat R, Ron D.
Genes Dev. 1994 Nov 1;8(21):2513-26.
PMID 7958914
Variability of EWS chimaeric transcripts in Ewing tumours: a comparison of clinical and molecular data.
Zoubek A, Pfleiderer C, Salzer-Kuntschik M, Amann G, Windhager R, Fink FM, Koscielniak E, Delattre O, Strehl S, Ambros PF, et al.
Br J Cancer. 1994 Nov;70(5):908-13.
PMID 7524604
EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts.
Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G.
Nat Genet. 1993a Aug;4(4):341-5.
PMID 8401579
Combinatorial generation of variable fusion proteins in the Ewing family of tumours.
Zucman J, Melot T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker JM, Triche TJ, Sheer D, Turc-Carel C, et al.
EMBO J. 1993b Dec;12(12):4481-7.
PMID 8223458
PDGF-C is an EWS/FLI induced transforming growth factor in Ewing family tumors.
Zwerner JP, May WA.
Oncogene. 2001 Feb 1;20(5):626-33.
PMID 11313995
EWS-FLI1 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma.
de Alava E, Kawai A, Healey JH, Fligman I, Meyers PA, Huvos AG, Gerald WL, Jhanwar SC, Argani P, Antonescu CR, Pardo-Mindan FJ, Ginsberg J, Womer R, Lawlor ER, Wunder J, Andrulis I, Sorensen PH, Barr FG, Ladanyi M.
J Clin Oncol. 1998 Apr;16(4):1248-55. Erratum in: J Clin Oncol 1998 Aug;16(8):2895.
PMID 9552022


This paper should be referenced as such :
Huret, JL
EWSR1 (Ewing sarcoma breakpoint region 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):395-407.
Free journal version : [ pdf ]   [ DOI ]
History of this paper:
Mugneret, F. EWSR1 (Ewing sarcoma region 1). Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):79-80.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(12;22)(p13;q12) EWSR1::ZNF384
t(16;21)(p11;q22) FUS::ERG
t(11;22)(q24;q12) EWSR1::FLI1
t(17;22)(q21;q12) EWSR1::HOXB8

External links


HGNC (Hugo)EWSR1   3508
Entrez_Gene (NCBI)EWSR1    EWS RNA binding protein 1
AliasesEWS; EWS-FLI1; bK984G1.4
GeneCards (Weizmann)EWSR1
Ensembl hg19 (Hinxton)ENSG00000182944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182944 [Gene_View]  ENSG00000182944 [Sequence]  chr22:29268268-29300521 [Contig_View]  EWSR1 [Vega]
ICGC DataPortalENSG00000182944
TCGA cBioPortalEWSR1
Genatlas (Paris)EWSR1
SOURCE (Princeton)EWSR1
Genetics Home Reference (NIH)EWSR1
Genomic and cartography
GoldenPath hg38 (UCSC)EWSR1  -     chr22:29268268-29300521 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EWSR1  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathEWSR1 - 22q12.2 [CytoView hg19]  EWSR1 - 22q12.2 [CytoView hg38]
Genome Data Viewer NCBIEWSR1 [Mapview hg19]  
OMIM133450   612219   
Gene and transcription
Genbank (Entrez)AI564543 AK026270 AK056309 AK056681 AK096787
RefSeq transcript (Entrez)NM_001163285 NM_001163286 NM_001163287 NM_005243 NM_013986
Consensus coding sequences : CCDS (NCBI)EWSR1
Gene ExpressionEWSR1 [ NCBI-GEO ]   EWSR1 [ EBI - ARRAY_EXPRESS ]   EWSR1 [ SEEK ]   EWSR1 [ MEM ]
Gene Expression Viewer (FireBrowse)EWSR1 [ Firebrowse - Broad ]
GenevisibleExpression of EWSR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2130
GTEX Portal (Tissue expression)EWSR1
Human Protein AtlasENSG00000182944-EWSR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01844   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01844  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01844
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_RANBP2_1 (PS01358)    ZF_RANBP2_2 (PS50199)   
Domains : Interpro (EBI)EWS_RRM    EWSR1    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom    TET_fam    Znf_RanBP2    Znf_RanBP2_sf   
Domain families : Pfam (Sanger)RRM_1 (PF00076)    zf-RanBP (PF00641)   
Domain families : Pfam (NCBI)pfam00076    pfam00641   
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_RBZ (SM00547)  
Conserved Domain (NCBI)EWSR1
PDB Europe2CPE   
Structural Biology KnowledgeBase2CPE   
SCOP (Structural Classification of Proteins)2CPE   
CATH (Classification of proteins structures)2CPE   
AlphaFold pdb e-kbQ01844   
Human Protein Atlas [tissue]ENSG00000182944-EWSR1 [tissue]
Protein Interaction databases
IntAct (EBI)Q01844
Ontologies - Pathways
Ontology : AmiGOtranscription coregulator activity  RNA binding  RNA binding  protein binding  calmodulin binding  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  regulation of transcription, DNA-templated  identical protein binding  metal ion binding  
Ontology : EGO-EBItranscription coregulator activity  RNA binding  RNA binding  protein binding  calmodulin binding  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  regulation of transcription, DNA-templated  identical protein binding  metal ion binding  
Pathways : KEGGTranscriptional misregulation in cancer   
NDEx NetworkEWSR1
Atlas of Cancer Signalling NetworkEWSR1
Wikipedia pathwaysEWSR1
Orthology - Evolution
GeneTree (enSembl)ENSG00000182944
Phylogenetic Trees/Animal Genes : TreeFamEWSR1
Homologs : HomoloGeneEWSR1
Homology/Alignments : Family Browser (UCSC)EWSR1
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1::ABR [22q12.2/17p13.3]  
Fusion : MitelmanEWSR1::ATF1 [22q12.2/12q13.12]  
Fusion : MitelmanEWSR1::CREB1 [22q12.2/2q33.3]  
Fusion : MitelmanEWSR1::CREB3L1 [22q12.2/11p11.2]  
Fusion : MitelmanEWSR1::CREB3L2 [22q12.2/7q33]  
Fusion : MitelmanEWSR1::DDIT3 [22q12.2/12q13.3]  
Fusion : MitelmanEWSR1::ERG [22q12.2/21q22.2]  
Fusion : MitelmanEWSR1::ETV1 [22q12.2/7p21.2]  
Fusion : MitelmanEWSR1::ETV4 [22q12.2/17q21.31]  
Fusion : MitelmanEWSR1::FEV [22q12.2/2q35]  
Fusion : MitelmanEWSR1::FLI1 [22q12.2/11q24.3]  
Fusion : MitelmanEWSR1::KLF17 [22q12.2/1p34.1]  
Fusion : MitelmanEWSR1::NFATC1 [22q12.2/18q23]  
Fusion : MitelmanEWSR1::NFATC2 [22q12.2/20q13.2]  
Fusion : MitelmanEWSR1::NR4A3 [22q12.2/9q22.33]  
Fusion : MitelmanEWSR1::PATZ1 [22q12.2/22q12.2]  
Fusion : MitelmanEWSR1::PBX1 [22q12.2/1q23.3]  
Fusion : MitelmanEWSR1::PBX3 [22q12.2/9q33.3]  
Fusion : MitelmanEWSR1::POU5F1 [22q12.2/6p21.33]  
Fusion : MitelmanEWSR1::SMARCA5 [22q12.2/4q31.21]  
Fusion : MitelmanEWSR1::SP3 [22q12.2/2q31.1]  
Fusion : MitelmanEWSR1::WT1 [22q12.2/11p13]  
Fusion : MitelmanEWSR1::YY1 [22q12.2/14q32.2]  
Fusion : MitelmanEWSR1::ZNF384 [22q12.2/12p13.31]  
Fusion : MitelmanEWSR1::ZNF444 [22q12.2/19q13.43]  
Fusion : COSMICYY1 [14q32.2]  -  EWSR1 [22q12.2]  [fusion_1423]  
Fusion : QuiverEWSR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEWSR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EWSR1
Exome Variant ServerEWSR1
GNOMAD BrowserENSG00000182944
Varsome BrowserEWSR1
ACMGEWSR1 variants
Genomic Variants (DGV)EWSR1 [DGVbeta]
DECIPHEREWSR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEWSR1 
ICGC Data PortalEWSR1 
TCGA Data PortalEWSR1 
Broad Tumor PortalEWSR1
OASIS PortalEWSR1 [ Somatic mutations - Copy number]
Cancer Gene: CensusEWSR1 
Somatic Mutations in Cancer : COSMICEWSR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEWSR1
Mutations and Diseases : HGMDEWSR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)EWSR1
DoCM (Curated mutations)EWSR1
CIViC (Clinical Interpretations of Variants in Cancer)EWSR1
NCG (London)EWSR1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM133450    612219   
Orphanet18668    3759    22490    11579    12894   
Genetic Testing Registry EWSR1
NextProtQ01844 [Medical]
Target ValidationEWSR1
Huge Navigator EWSR1 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDEWSR1
Pharm GKB GenePA27921
Clinical trialEWSR1
DataMed IndexEWSR1
PubMed359 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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