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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:XPO1-EIF4A2 (FusionGDB2 ID:99660)

Fusion Gene Summary for XPO1-EIF4A2

check button Fusion gene summary
Fusion gene informationFusion gene name: XPO1-EIF4A2
Fusion gene ID: 99660
HgeneTgene
Gene symbol

XPO1

EIF4A2

Gene ID

7514

1974

Gene nameexportin 1eukaryotic translation initiation factor 4A2
SynonymsCRM-1|CRM1|emb|exp1BM-010|DDX2B|EIF4A|EIF4F|eIF-4A-II|eIF4A-II
Cytomap

2p15

3q27.3

Type of geneprotein-codingprotein-coding
Descriptionexportin-1chromosome region maintenance 1 homologchromosome region maintenance 1 protein homologexportin 1 (CRM1 homolog, yeast)exportin-1 (required for chromosome region maintenance)eukaryotic initiation factor 4A-IIATP-dependent RNA helicase eIF4A-2
Modification date2020032720200322
UniProtAcc.

Q14240

Ensembl transtripts involved in fusion geneENST00000401558, ENST00000404992, 
ENST00000406957, ENST00000481214, 
ENST00000323963, ENST00000356531, 
ENST00000440191, 
Fusion gene scores* DoF score12 X 15 X 9=162013 X 14 X 6=1092
# samples 1916
** MAII scorelog2(19/1620*10)=-3.09192248944104
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: XPO1 [Title/Abstract] AND EIF4A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointXPO1(61722590)-EIF4A2(186504916), # samples:1
Anticipated loss of major functional domain due to fusion event.XPO1-EIF4A2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
XPO1-EIF4A2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
XPO1-EIF4A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
XPO1-EIF4A2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
XPO1-EIF4A2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
XPO1-EIF4A2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
XPO1-EIF4A2 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
HgeneXPO1

GO:0006611

protein export from nucleus

22250199

TgeneEIF4A2

GO:1900260

negative regulation of RNA-directed 5'-3' RNA polymerase activity

11922617


check buttonFusion gene breakpoints across XPO1 (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 EIF4A2 (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
ChimerDB4STADTCGA-HU-A4GN-01AXPO1chr2

61722590

-EIF4A2chr3

186504916

+


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Fusion Gene ORF analysis for XPO1-EIF4A2

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
Frame-shiftENST00000401558ENST00000323963XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000401558ENST00000356531XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000401558ENST00000440191XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000404992ENST00000323963XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000404992ENST00000356531XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000404992ENST00000440191XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000406957ENST00000323963XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000406957ENST00000356531XPO1chr2

61722590

-EIF4A2chr3

186504916

+
Frame-shiftENST00000406957ENST00000440191XPO1chr2

61722590

-EIF4A2chr3

186504916

+
intron-3CDSENST00000481214ENST00000323963XPO1chr2

61722590

-EIF4A2chr3

186504916

+
intron-3CDSENST00000481214ENST00000356531XPO1chr2

61722590

-EIF4A2chr3

186504916

+
intron-3CDSENST00000481214ENST00000440191XPO1chr2

61722590

-EIF4A2chr3

186504916

+

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 XPO1-EIF4A2


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)
XPO1chr261722589-EIF4A2chr3186504915+0.0915812850.9084187
XPO1chr261722589-EIF4A2chr3186504915+0.0915812850.9084187

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 XPO1-EIF4A2


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/:61722590/:186504916)
- 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
.EIF4A2

Q14240

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}.FUNCTION: ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.

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 XPO1-EIF4A2


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 XPO1-EIF4A2


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 XPO1-EIF4A2


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 XPO1-EIF4A2


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