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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:EPB41L2-MAP4K1 (FusionGDB2 ID:26835)

Fusion Gene Summary for EPB41L2-MAP4K1

check button Fusion gene summary
Fusion gene informationFusion gene name: EPB41L2-MAP4K1
Fusion gene ID: 26835
HgeneTgene
Gene symbol

EPB41L2

MAP4K1

Gene ID

2037

11184

Gene nameerythrocyte membrane protein band 4.1 like 2mitogen-activated protein kinase kinase kinase kinase 1
Synonyms4.1-G|4.1GHPK1
Cytomap

6q23.1-q23.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionband 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1mitogen-activated protein kinase kinase kinase kinase 1MAPK/ERK kinase kinase kinase 1MEK kinase kinase 1MEKKK 1hematopoietic progenitor kinase 1
Modification date2020031320200327
UniProtAcc.

Q92918

Ensembl transtripts involved in fusion geneENST00000337057, ENST00000392427, 
ENST00000368128, ENST00000445890, 
ENST00000524581, ENST00000525193, 
ENST00000525271, ENST00000527411, 
ENST00000527659, ENST00000528282, 
ENST00000529208, ENST00000530148, 
ENST00000530481, ENST00000530757, 
ENST00000531410, 
ENST00000396857, 
ENST00000586296, ENST00000589130, 
ENST00000591517, ENST00000423454, 
ENST00000589002, 
Fusion gene scores* DoF score12 X 11 X 7=9246 X 6 X 5=180
# samples 136
** MAII scorelog2(13/924*10)=-2.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPB41L2 [Title/Abstract] AND MAP4K1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPB41L2(131384295)-MAP4K1(39078457), # samples:2
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
TgeneMAP4K1

GO:0006468

protein phosphorylation

8824585

TgeneMAP4K1

GO:0007257

activation of JUN kinase activity

8824585

TgeneMAP4K1

GO:0018105

peptidyl-serine phosphorylation

11053428|24362026

TgeneMAP4K1

GO:0046777

protein autophosphorylation

8824585|24362026

TgeneMAP4K1

GO:1904628

cellular response to phorbol 13-acetate 12-myristate

8824585


check buttonFusion gene breakpoints across EPB41L2 (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 MAP4K1 (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
ChimerDB4COADTCGA-AY-6196-01AEPB41L2chr6

131384295

-MAP4K1chr19

39078457

-


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Fusion Gene ORF analysis for EPB41L2-MAP4K1

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
5UTR-3CDSENST00000337057ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000337057ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000337057ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000337057ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000392427ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000392427ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000392427ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-3CDSENST00000392427ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-intronENST00000337057ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-intronENST00000337057ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-intronENST00000392427ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
5UTR-intronENST00000392427ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000368128ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000368128ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000368128ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000368128ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000445890ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000445890ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000445890ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000445890ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000524581ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000524581ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000524581ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000524581ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525193ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525193ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525193ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525193ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525271ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525271ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525271ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000525271ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527411ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527411ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527411ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527411ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527659ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527659ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527659ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000527659ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000528282ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000528282ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000528282ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000528282ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000529208ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000529208ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000529208ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000529208ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530148ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530148ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530148ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530148ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530481ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530481ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530481ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530481ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530757ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530757ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530757ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000530757ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000531410ENST00000396857EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000531410ENST00000586296EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000531410ENST00000589130EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-3CDSENST00000531410ENST00000591517EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000368128ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000368128ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000445890ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000445890ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000524581ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000524581ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000525193ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000525193ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000525271ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000525271ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000527411ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000527411ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000527659ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000527659ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000528282ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000528282ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000529208ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000529208ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530148ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530148ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530481ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530481ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530757ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000530757ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000531410ENST00000423454EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-
intron-intronENST00000531410ENST00000589002EPB41L2chr6

131384295

-MAP4K1chr19

39078457

-

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 EPB41L2-MAP4K1


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 EPB41L2-MAP4K1


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/:131384295/:39078457)
- 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
.MAP4K1

Q92918

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: Serine/threonine-protein kinase, which may play a role in the response to environmental stress (PubMed:24362026). Appears to act upstream of the JUN N-terminal pathway (PubMed:8824585). May play a role in hematopoietic lineage decisions and growth regulation (PubMed:8824585, PubMed:24362026). Able to autophosphorylate (PubMed:8824585). Together with CLNK, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity). {ECO:0000250|UniProtKB:P70218, ECO:0000269|PubMed:24362026, ECO:0000269|PubMed:8824585}.

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 EPB41L2-MAP4K1


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 EPB41L2-MAP4K1


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 EPB41L2-MAP4K1


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 EPB41L2-MAP4K1


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