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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EWSR1-SF1 (FusionGDB2 ID:HG2130TG7536)

Fusion Gene Summary for EWSR1-SF1

check button Fusion gene summary
Fusion gene informationFusion gene name: EWSR1-SF1
Fusion gene ID: hg2130tg7536
HgeneTgene
Gene symbol

EWSR1

SF1

Gene ID

2130

7536

Gene nameEWS RNA binding protein 1splicing factor 1
SynonymsEWS|EWS-FLI1|bK984G1.4BBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162
Cytomap('EWSR1')('SF1')

22q12.2

11q13.1

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogenesplicing factor 1mammalian branch point-binding proteintranscription factor ZFM1zinc finger gene in MEN1 locuszinc finger protein 162
Modification date2020032920200318
UniProtAcc

Q01844

.
Ensembl transtripts involved in fusion geneENST00000332035, ENST00000333395, 
ENST00000397938, ENST00000406548, 
ENST00000414183, ENST00000331029, 
ENST00000332050, 
Fusion gene scores* DoF score44 X 91 X 16=6406410 X 8 X 5=400
# samples 989
** MAII scorelog2(98/64064*10)=-6.03058831983342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/400*10)=-2.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EWSR1 [Title/Abstract] AND SF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEWSR1(29684775)-SF1(64532990), # samples:1
Anticipated loss of major functional domain due to fusion event.EWSR1-SF1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
EWSR1-SF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
EWSR1-SF1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID


check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-K7-A5RFEWSR1chr22

29684775

+SF1chr11

64532990

-


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Fusion Gene ORF analysis for EWSR1-SF1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000332035ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000332035ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000332035ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000332035ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000332035ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000333395ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000333395ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000333395ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000333395ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000333395ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000397938ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000397938ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000397938ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000397938ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000397938ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000406548ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000406548ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000406548ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000406548ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000406548ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000414183ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000414183ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000414183ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000414183ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-3UTRENST00000414183ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000332035ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000332035ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000333395ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000333395ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000397938ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000397938ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000406548ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000406548ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000414183ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
5CDS-intronENST00000414183ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
Frame-shiftENST00000332035ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
Frame-shiftENST00000333395ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
Frame-shiftENST00000397938ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
Frame-shiftENST00000406548ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
Frame-shiftENST00000414183ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3CDSENST00000331029ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3CDSENST00000332050ENST00000377387EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000331029ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000331029ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000331029ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000331029ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000331029ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000332050ENST00000227503EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000332050ENST00000334944EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000332050ENST00000377390EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000332050ENST00000377394EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-3UTRENST00000332050ENST00000422298EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-intronENST00000331029ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-intronENST00000331029ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-intronENST00000332050ENST00000433274EWSR1chr22

29684775

+SF1chr11

64532990

-
intron-intronENST00000332050ENST00000489544EWSR1chr22

29684775

+SF1chr11

64532990

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for EWSR1-SF1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for EWSR1-SF1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:29684775/:64532990)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EWSR1

Q01844

.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for EWSR1-SF1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for EWSR1-SF1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for EWSR1-SF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for EWSR1-SF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEWSR1C0553580Ewings sarcoma3CTD_human;ORPHANET
HgeneEWSR1C0002736Amyotrophic Lateral Sclerosis1GENOMICS_ENGLAND
HgeneEWSR1C0033578Prostatic Neoplasms1CTD_human
HgeneEWSR1C0206651Clear Cell Sarcoma of Soft Tissue1ORPHANET
HgeneEWSR1C0206663Neuroectodermal Tumor, Primitive1CTD_human
HgeneEWSR1C0279980Extra-osseous Ewing's sarcoma1ORPHANET
HgeneEWSR1C0334584Spongioblastoma1CTD_human
HgeneEWSR1C0334596Medulloepithelioma1CTD_human
HgeneEWSR1C0376358Malignant neoplasm of prostate1CTD_human
HgeneEWSR1C0700367Ependymoblastoma1CTD_human
HgeneEWSR1C0751675Cerebral Primitive Neuroectodermal Tumor1CTD_human
HgeneEWSR1C1275278Extraskeletal Myxoid Chondrosarcoma1ORPHANET
TgeneC0025202melanoma1CTD_human