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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:GAS2L1-EWSR1 (FusionGDB2 ID:32484)

Fusion Gene Summary for GAS2L1-EWSR1

check button Fusion gene summary
Fusion gene informationFusion gene name: GAS2L1-EWSR1
Fusion gene ID: 32484
HgeneTgene
Gene symbol

GAS2L1

EWSR1

Gene ID

10634

2130

Gene namegrowth arrest specific 2 like 1EWS RNA binding protein 1
SynonymsGAR22EWS|EWS-FLI1|bK984G1.4
Cytomap

22q12.2

22q12.2

Type of geneprotein-codingprotein-coding
DescriptionGAS2-like protein 1GAS2-related protein on chromosome 22epididymis secretory sperm binding proteingrowth arrest-specific protein 2-like 1RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene
Modification date2020031320200329
UniProtAcc

Q99501

Q01844

Ensembl transtripts involved in fusion geneENST00000341313, ENST00000403764, 
ENST00000406549, ENST00000407647, 
ENST00000407854, ENST00000471961, 
ENST00000360113, 		ENST00000332035, 
ENST00000333395, ENST00000331029, 
ENST00000332050, ENST00000397938, 
ENST00000406548, ENST00000414183, 
Fusion gene scores* DoF score3 X 2 X 3=1817 X 58 X 10=9860
# samples 348
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(48/9860*10)=-4.36048133565676
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAS2L1 [Title/Abstract] AND EWSR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGAS2L1(29706988)-EWSR1(29694723), # samples:1
Anticipated loss of major functional domain due to fusion event.GAS2L1-EWSR1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
GAS2L1-EWSR1 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
HgeneGAS2L1

GO:0097067

cellular response to thyroid hormone stimulus

19375645

HgeneGAS2L1

GO:1904825

protein localization to microtubule plus-end

24706950


check buttonFusion gene breakpoints across GAS2L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EWSR1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4KIRCTCGA-AS-3777-01AGAS2L1chr22

29706988

+EWSR1chr22

29694723

+


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Fusion Gene ORF analysis for GAS2L1-EWSR1

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-intronENST00000341313ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000341313ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000403764ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000403764ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000406549ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000406549ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407647ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407647ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407854ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000407854ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000471961ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
5CDS-intronENST00000471961ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000341313ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000341313ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000341313ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000341313ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000341313ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000403764ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000403764ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000403764ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000403764ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000403764ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000406549ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000406549ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000406549ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000406549ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000406549ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407647ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407647ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407647ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407647ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407647ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407854ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407854ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407854ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407854ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000407854ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000471961ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000471961ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000471961ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000471961ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
Frame-shiftENST00000471961ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000331029GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000332050GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000397938GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000406548GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-3CDSENST00000360113ENST00000414183GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-intronENST00000360113ENST00000332035GAS2L1chr22

29706988

+EWSR1chr22

29694723

+
intron-intronENST00000360113ENST00000333395GAS2L1chr22

29706988

+EWSR1chr22

29694723

+

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 GAS2L1-EWSR1


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)
GAS2L1chr2229706988+EWSR1chr2229694722+0.0041519550.99584806
GAS2L1chr2229706988+EWSR1chr2229694722+0.0041519550.99584806

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for GAS2L1-EWSR1


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/:29706988/:29694723)
- 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
GAS2L1

Q99501

EWSR1

Q01844

FUNCTION: Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). {ECO:0000269|PubMed:12584248, ECO:0000269|PubMed:24706950}.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.

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 GAS2L1-EWSR1


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 GAS2L1-EWSR1


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 GAS2L1-EWSR1


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 GAS2L1-EWSR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource