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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:EPB41L5-EPB41L5 (FusionGDB2 ID:26867)

Fusion Gene Summary for EPB41L5-EPB41L5

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L5-EPB41L5
Fusion gene ID: 26867
HgeneTgene
Gene symbol

EPB41L5

EPB41L5

Gene ID

57669

57669

Gene nameerythrocyte membrane protein band 4.1 like 5erythrocyte membrane protein band 4.1 like 5
SynonymsBE37|LULU|LULU1|YMO1|YRTBE37|LULU|LULU1|YMO1|YRT
Cytomap

2q14.2

2q14.2

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 5yurt homologband 4.1-like protein 5yurt homolog
Modification date2020031320200313
UniProtAcc

Q9HCM4

Q9HCM4

Ensembl transtripts involved in fusion geneENST00000263713, ENST00000331393, 
ENST00000443124, ENST00000443902, 
ENST00000452780, ENST00000488691, 
ENST00000263713, ENST00000331393, 
ENST00000443124, ENST00000443902, 
ENST00000452780, ENST00000488691, 
Fusion gene scores* DoF score6 X 6 X 4=1449 X 9 X 4=324
# samples 69
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPB41L5 [Title/Abstract] AND EPB41L5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPB41L5(120830796)-EPB41L5(120771434), # 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 EPB41L5 (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 EPB41L5 (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/AAK023922EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+


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Fusion Gene ORF analysis for EPB41L5-EPB41L5

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-intronENST00000263713ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000263713ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000263713ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000263713ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000263713ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000263713ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000331393ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443124ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000443902ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
5CDS-intronENST00000452780ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000263713EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000331393EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000443124EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000443902EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000452780EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+
intron-intronENST00000488691ENST00000488691EPB41L5chr2

120830796

+EPB41L5chr2

120771434

+

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 EPB41L5-EPB41L5


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 EPB41L5-EPB41L5


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/:120830796/:120771434)
- 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
EPB41L5

Q9HCM4

EPB41L5

Q9HCM4

FUNCTION: Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells. {ECO:0000269|PubMed:17920587}.FUNCTION: Plays a role in the formation and organization of tight junctions during the establishment of polarity in epithelial cells. {ECO:0000269|PubMed:17920587}.

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 EPB41L5-EPB41L5


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 EPB41L5-EPB41L5


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 EPB41L5-EPB41L5


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 EPB41L5-EPB41L5


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