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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:EPN2-FARSA (FusionGDB2 ID:27031)

Fusion Gene Summary for EPN2-FARSA

check button Fusion gene summary
Fusion gene informationFusion gene name: EPN2-FARSA
Fusion gene ID: 27031
HgeneTgene
Gene symbol

EPN2

FARSA

Gene ID

22905

2193

Gene nameepsin 2phenylalanyl-tRNA synthetase subunit alpha
SynonymsEHB21CML33|FARSL|FARSLA|FRSA|PheHA
Cytomap

17p11.2

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionepsin-2EPS-15-interacting protein 2Eps15 binding proteinphenylalanine--tRNA ligase alpha subunitpheRSphenylalanine tRNA ligase 1, alpha, cytoplasmicphenylalanine--tRNA ligase alpha chainphenylalanine-tRNA synthetase alpha-subunitphenylalanine-tRNA synthetase-like, alpha subunitphenylalanyl-tRNA synthetas
Modification date2020031320200320
UniProtAcc

O95208

Q9Y285

Ensembl transtripts involved in fusion geneENST00000314728, ENST00000347697, 
ENST00000395618, ENST00000395620, 
ENST00000395626, ENST00000571254, 
ENST00000575595, ENST00000441293, 
ENST00000314606, ENST00000423140, 
ENST00000588025, 
Fusion gene scores* DoF score8 X 4 X 7=2242 X 2 X 2=8
# samples 122
** MAII scorelog2(12/224*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: EPN2 [Title/Abstract] AND FARSA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPN2(19232200)-FARSA(13035817), # samples:1
Anticipated loss of major functional domain due to fusion event.EPN2-FARSA 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
TgeneFARSA

GO:0006432

phenylalanyl-tRNA aminoacylation

20223217

TgeneFARSA

GO:0051290

protein heterotetramerization

20223217


check buttonFusion gene breakpoints across EPN2 (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 FARSA (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
ChimerDB4ESCATCGA-LN-A49NEPN2chr17

19232200

+FARSAchr19

13035817

-


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Fusion Gene ORF analysis for EPN2-FARSA

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-shiftENST00000314728ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000314728ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000314728ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000347697ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000347697ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000347697ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395618ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395618ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395618ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395620ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395620ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395620ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395626ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395626ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000395626ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000571254ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000571254ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000571254ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000575595ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000575595ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
Frame-shiftENST00000575595ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-
intron-3CDSENST00000441293ENST00000314606EPN2chr17

19232200

+FARSAchr19

13035817

-
intron-3CDSENST00000441293ENST00000423140EPN2chr17

19232200

+FARSAchr19

13035817

-
intron-3CDSENST00000441293ENST00000588025EPN2chr17

19232200

+FARSAchr19

13035817

-

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 EPN2-FARSA


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)

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.

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Fusion Protein Features for EPN2-FARSA


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/:19232200/:13035817)
- 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
EPN2

O95208

FARSA

Q9Y285

FUNCTION: Plays a role in the formation of clathrin-coated invaginations and endocytosis. {ECO:0000269|PubMed:10567358}.

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 EPN2-FARSA


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 EPN2-FARSA


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 EPN2-FARSA


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 EPN2-FARSA


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