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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:EPB41L3-FYB (FusionGDB2 ID:26842)

Fusion Gene Summary for EPB41L3-FYB

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L3-FYB
Fusion gene ID: 26842
HgeneTgene
Gene symbol

EPB41L3

FYB

Gene ID

23136

2533

Gene nameerythrocyte membrane protein band 4.1 like 3FYN binding protein 1
Synonyms4.1B|DAL-1|DAL1ADAP|FYB|PRO0823|SLAP-130|SLAP130|THC3
Cytomap

18p11.31

5p13.1

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 3differentially expressed in adenocarcinoma of the lung protein 1FYN-binding protein 1FYB-120/130FYN-T-binding proteinFYN-binding proteinSLP-76-associated phosphoproteinadhesion and degranulation-promoting adaptor proteinp120/p130
Modification date2020032020200313
UniProtAcc

Q9Y2J2

O15117

Ensembl transtripts involved in fusion geneENST00000341928, ENST00000342933, 
ENST00000400111, ENST00000427684, 
ENST00000540638, ENST00000542146, 
ENST00000542652, ENST00000544123, 
ENST00000351578, ENST00000505428, 
ENST00000512982, ENST00000515010, 
ENST00000540520, ENST00000503065, 
Fusion gene scores* DoF score6 X 6 X 3=10814 X 11 X 6=924
# samples 615
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/924*10)=-2.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPB41L3 [Title/Abstract] AND FYB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPB41L3(5393395)-FYB(39127859), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across EPB41L3 (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 FYB (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
ChiTaRS5.0N/ABF931907EPB41L3chr18

5393395

-FYBchr5

39127859

+


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Fusion Gene ORF analysis for EPB41L3-FYB

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
intron-3CDSENST00000341928ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000341928ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000341928ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000341928ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000341928ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000342933ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000342933ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000342933ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000342933ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000342933ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000400111ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000400111ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000400111ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000400111ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000400111ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000427684ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000427684ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000427684ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000427684ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000427684ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000540638ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000540638ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000540638ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000540638ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000540638ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542146ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542146ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542146ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542146ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542146ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542652ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542652ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542652ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542652ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000542652ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000544123ENST00000351578EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000544123ENST00000505428EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000544123ENST00000512982EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000544123ENST00000515010EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-3CDSENST00000544123ENST00000540520EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000341928ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000342933ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000400111ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000427684ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000540638ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000542146ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000542652ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+
intron-intronENST00000544123ENST00000503065EPB41L3chr18

5393395

-FYBchr5

39127859

+

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 EPB41L3-FYB


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 EPB41L3-FYB


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/:5393395/:39127859)
- 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
EPB41L3

Q9Y2J2

FYB

O15117

FUNCTION: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. {ECO:0000269|PubMed:15334060, ECO:0000269|PubMed:15737618, ECO:0000269|PubMed:16420693, ECO:0000269|PubMed:9892180}.FUNCTION: Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity). {ECO:0000250|UniProtKB:D3ZIE4, ECO:0000250|UniProtKB:O35601, ECO:0000269|PubMed:10747096, ECO:0000269|PubMed:15849195, ECO:0000269|PubMed:16980616}.

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 EPB41L3-FYB


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 EPB41L3-FYB


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 EPB41L3-FYB


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 EPB41L3-FYB


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