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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:EPHX2-BNIP3L (FusionGDB2 ID:HG2053TG665)

Fusion Gene Summary for EPHX2-BNIP3L

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHX2-BNIP3L
Fusion gene ID: hg2053tg665
HgeneTgene
Gene symbol

EPHX2

BNIP3L

Gene ID

2053

665

Gene nameepoxide hydrolase 2BCL2 interacting protein 3 like
SynonymsABHD20|CEH|SEHBNIP3a|NIX
Cytomap('EPHX2')('BNIP3L')

8p21.2-p21.1

8p21.2

Type of geneprotein-codingprotein-coding
Descriptionbifunctional epoxide hydrolase 2epoxide hydrataseepoxide hydrolase 2, cytoplasmicepoxide hydrolase 2, cytosolicepoxide hydrolase, solubleBCL2/adenovirus E1B 19 kDa protein-interacting protein 3-likeBCL2/adenovirus E1B 19 kDa protein-interacting protein 3ABCL2/adenovirus E1B 19-kd protein-interacting protein 3aBCL2/adenovirus E1B 19kDa interacting protein 3 likeNIP-3-like protein XNIP3
Modification date2020032720200313
UniProtAcc

P34913

.
Ensembl transtripts involved in fusion geneENST00000380476, ENST00000517536, 
ENST00000518379, ENST00000521400, 
ENST00000521780, ENST00000520666, 
Fusion gene scores* DoF score3 X 2 X 3=189 X 8 X 6=432
# samples 411
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/432*10)=-1.97352778863881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPHX2 [Title/Abstract] AND BNIP3L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPHX2(27401761)-BNIP3L(26265516), # samples:2
Anticipated loss of major functional domain due to fusion event.EPHX2-BNIP3L seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EPHX2-BNIP3L seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EPHX2-BNIP3L seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneEPHX2

GO:0010628

positive regulation of gene expression

18974052

HgeneEPHX2

GO:0016311

dephosphorylation

12574508

HgeneEPHX2

GO:0042632

cholesterol homeostasis

18974052

HgeneEPHX2

GO:0046272

stilbene catabolic process

8342951

HgeneEPHX2

GO:0046839

phospholipid dephosphorylation

12574510

HgeneEPHX2

GO:0097176

epoxide metabolic process

22798687

TgeneBNIP3L

GO:0043065

positive regulation of apoptotic process

9973195

TgeneBNIP3L

GO:0043066

negative regulation of apoptotic process

10381623

TgeneBNIP3L

GO:0051607

defense response to virus

9973195



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-E9-A1NA-01AEPHX2chr8

27401761

-BNIP3Lchr8

26265516

+
ChimerDB4BRCATCGA-E9-A1NA-01AEPHX2chr8

27401761

+BNIP3Lchr8

26265516

+


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Fusion Gene ORF analysis for EPHX2-BNIP3L

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-3UTRENST00000380476ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
5CDS-3UTRENST00000517536ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
5CDS-3UTRENST00000518379ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
5CDS-3UTRENST00000521400ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
5CDS-3UTRENST00000521780ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000380476ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000380476ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000380476ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000380476ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000517536ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000517536ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000517536ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000517536ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000518379ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000518379ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000518379ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000518379ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521400ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521400ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521400ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521400ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521780ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521780ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521780ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
Frame-shiftENST00000521780ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
intron-3CDSENST00000520666ENST00000380629EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
intron-3CDSENST00000520666ENST00000518611EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
intron-3CDSENST00000520666ENST00000520409EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
intron-3CDSENST00000520666ENST00000523515EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+
intron-3UTRENST00000520666ENST00000521254EPHX2chr8

27401761

+BNIP3Lchr8

26265516

+

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 EPHX2-BNIP3L


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)
EPHX2chr827401761+BNIP3Lchr826265515+0.0001843550.99981564
EPHX2chr827401761+BNIP3Lchr826265515+0.0001843550.99981564


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 EPHX2-BNIP3L


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/:27401761/:26265516)
- 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
EPHX2

P34913

.
FUNCTION: Bifunctional enzyme (PubMed:12574510). The C-terminal domain has epoxide hydrolase activity and acts on epoxides (alkene oxides, oxiranes) and arene oxides (PubMed:12869654, PubMed:12574510, PubMed:22798687). Plays a role in xenobiotic metabolism by degrading potentially toxic epoxides (By similarity). Also determines steady-state levels of physiological mediators (PubMed:12869654, PubMed:12574510, PubMed:22798687, PubMed:21217101). {ECO:0000250|UniProtKB:P80299, ECO:0000269|PubMed:12574508, ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:12869654, ECO:0000269|PubMed:21217101, ECO:0000269|PubMed:22798687}.; FUNCTION: Bifunctional enzyme (PubMed:12574510). The N-terminal domain has lipid phosphatase activity, with the highest activity towards threo-9,10-phosphonooxy-hydroxy-octadecanoic acid, followed by erythro-9,10-phosphonooxy-hydroxy-octadecanoic acid, 12-phosphonooxy-octadec-9Z-enoic acid and 12-phosphonooxy-octadec-9E-enoic acid (PubMed:12574510). Has phosphatase activity toward lyso-glycerophospholipids with also some lower activity toward lysolipids of sphingolipid and isoprenoid phosphates (PubMed:22217705, PubMed:22387545). {ECO:0000269|PubMed:12574510, ECO:0000269|PubMed:22217705, ECO:0000269|PubMed:22387545}.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}.

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 EPHX2-BNIP3L


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 EPHX2-BNIP3L


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 EPHX2-BNIP3L


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 EPHX2-BNIP3L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPHX2C0013221Drug toxicity1CTD_human
HgeneEPHX2C0018801Heart failure1CTD_human
HgeneEPHX2C0018802Congestive heart failure1CTD_human
HgeneEPHX2C0022660Kidney Failure, Acute1CTD_human
HgeneEPHX2C0023212Left-Sided Heart Failure1CTD_human
HgeneEPHX2C0027055Myocardial Reperfusion Injury1CTD_human
HgeneEPHX2C0036341Schizophrenia1CTD_human
HgeneEPHX2C0041755Adverse reaction to drug1CTD_human
HgeneEPHX2C0151744Myocardial Ischemia1CTD_human
HgeneEPHX2C0235527Heart Failure, Right-Sided1CTD_human
HgeneEPHX2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneEPHX2C1510586Autism Spectrum Disorders1CTD_human
HgeneEPHX2C1565662Acute Kidney Insufficiency1CTD_human
HgeneEPHX2C1959583Myocardial Failure1CTD_human
HgeneEPHX2C1961112Heart Decompensation1CTD_human
HgeneEPHX2C2609414Acute kidney injury1CTD_human