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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:SPOP-EPHX2 (FusionGDB2 ID:85348)

Fusion Gene Summary for SPOP-EPHX2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPOP-EPHX2
Fusion gene ID: 85348
HgeneTgene
Gene symbol

SPOP

EPHX2

Gene ID

8405

2053

Gene namespeckle type BTB/POZ proteinepoxide hydrolase 2
SynonymsBTBD32|TEF2ABHD20|CEH|SEH
Cytomap

17q21.33

8p21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptionspeckle-type POZ proteinHIB homolog 1roadkill homolog 1bifunctional epoxide hydrolase 2epoxide hydrataseepoxide hydrolase 2, cytoplasmicepoxide hydrolase 2, cytosolicepoxide hydrolase, soluble
Modification date2020032920200327
UniProtAcc.

P34913

Ensembl transtripts involved in fusion geneENST00000393328, ENST00000393331, 
ENST00000347630, ENST00000504102, 
ENST00000503676, ENST00000513080, 
ENST00000521400, ENST00000517536, 
ENST00000521780, ENST00000380476, 
ENST00000518379, ENST00000520666, 
Fusion gene scores* DoF score37 X 22 X 16=130244 X 4 X 3=48
# samples 464
** MAII scorelog2(46/13024*10)=-4.82339493332187
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointSPOP(47755295)-EPHX2(27358443), # samples:3
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
TgeneEPHX2

GO:0010628

positive regulation of gene expression

18974052

TgeneEPHX2

GO:0016311

dephosphorylation

12574508

TgeneEPHX2

GO:0042632

cholesterol homeostasis

18974052

TgeneEPHX2

GO:0046272

stilbene catabolic process

8342951

TgeneEPHX2

GO:0046839

phospholipid dephosphorylation

12574510

TgeneEPHX2

GO:0097176

epoxide metabolic process

22798687


check buttonFusion gene breakpoints across SPOP (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 EPHX2 (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
ChimerDB4UCSTCGA-ND-A4WF-01ASPOPchr17

47755295

-EPHX2chr8

27358443

+
ChimerDB4UCSTCGA-ND-A4WFSPOPchr17

47755295

-EPHX2chr8

27358443

+
ChimerDB4UCSTCGA-ND-A4WF-01ASPOPchr17

47755295

-EPHX2chr8

27358443

+


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Fusion Gene ORF analysis for SPOP-EPHX2

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-3CDSENST00000393328ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000393328ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393328ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393328ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393328ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3UTRENST00000393328ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000393331ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000393331ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393331ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393331ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000393331ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3UTRENST00000393331ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000347630ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000347630ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000347630ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000347630ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000347630ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3UTRENST00000347630ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000504102ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000504102ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000504102ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000504102ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000504102ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3UTRENST00000504102ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-3CDSENST00000503676ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-3CDSENST00000503676ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-intronENST00000503676ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-intronENST00000503676ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-intronENST00000503676ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
intron-3UTRENST00000503676ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000513080ENST00000521400SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3CDSENST00000513080ENST00000517536SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000513080ENST00000521780SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000513080ENST00000380476SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-intronENST00000513080ENST00000518379SPOPchr17

47755295

-EPHX2chr8

27358443

+
5UTR-3UTRENST00000513080ENST00000520666SPOPchr17

47755295

-EPHX2chr8

27358443

+

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 SPOP-EPHX2


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)
SPOPchr1747755294-EPHX2chr827358444+3.02E-091
SPOPchr1747755294-EPHX2chr827358444+3.02E-091
SPOPchr1747755294-EPHX2chr827358444+3.02E-091
SPOPchr1747755294-EPHX2chr827358444+3.02E-091

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 SPOP-EPHX2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.EPHX2

P34913

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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}.

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 SPOP-EPHX2


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 SPOP-EPHX2


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 SPOP-EPHX2


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 SPOP-EPHX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPOPC0033578Prostatic Neoplasms3CTD_human
HgeneSPOPC0376358Malignant neoplasm of prostate3CTD_human;GENOMICS_ENGLAND
HgeneSPOPC0014170Endometrial Neoplasms1CTD_human
HgeneSPOPC0476089Endometrial Carcinoma1CGI;CTD_human
HgeneSPOPC1176475Ductal Carcinoma1CTD_human
TgeneEPHX2C0013221Drug toxicity1CTD_human
TgeneEPHX2C0018801Heart failure1CTD_human
TgeneEPHX2C0018802Congestive heart failure1CTD_human
TgeneEPHX2C0022660Kidney Failure, Acute1CTD_human
TgeneEPHX2C0023212Left-Sided Heart Failure1CTD_human
TgeneEPHX2C0027055Myocardial Reperfusion Injury1CTD_human
TgeneEPHX2C0036341Schizophrenia1CTD_human
TgeneEPHX2C0041755Adverse reaction to drug1CTD_human
TgeneEPHX2C0151744Myocardial Ischemia1CTD_human
TgeneEPHX2C0235527Heart Failure, Right-Sided1CTD_human
TgeneEPHX2C0242698Ventricular Dysfunction, Left1CTD_human
TgeneEPHX2C1510586Autism Spectrum Disorders1CTD_human
TgeneEPHX2C1565662Acute Kidney Insufficiency1CTD_human
TgeneEPHX2C1959583Myocardial Failure1CTD_human
TgeneEPHX2C1961112Heart Decompensation1CTD_human
TgeneEPHX2C2609414Acute kidney injury1CTD_human