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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:EPHX1-USH2A (FusionGDB2 ID:26980)

Fusion Gene Summary for EPHX1-USH2A

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHX1-USH2A
Fusion gene ID: 26980
HgeneTgene
Gene symbol

EPHX1

USH2A

Gene ID

2052

7399

Gene nameepoxide hydrolase 1usherin
SynonymsEPHX|EPOX|HYL1|MEHRP39|US2|USH2|dJ1111A8.1
Cytomap

1q42.12

1q41

Type of geneprotein-codingprotein-coding
Descriptionepoxide hydrolase 1epoxide hydrataseepoxide hydrolase 1 microsomalepoxide hydrolase 1, microsomal (xenobiotic)usherinUsher syndrome 2A (autosomal recessive, mild)usher syndrome type IIa proteinusher syndrome type-2A protein
Modification date2020031320200313
UniProtAcc

P07099

.
Ensembl transtripts involved in fusion geneENST00000272167, ENST00000366837, 
ENST00000467015, 		ENST00000366943, 
ENST00000307340, ENST00000366942, 
Fusion gene scores* DoF score6 X 6 X 4=1447 X 7 X 5=245
# samples 67
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPHX1 [Title/Abstract] AND USH2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPHX1(225997871)-USH2A(216465712), # 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
HgeneEPHX1

GO:0097176

epoxide metabolic process

22798687


check buttonFusion gene breakpoints across EPHX1 (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 USH2A (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
ChimerDB4BRCATCGA-E2-A1LK-01AEPHX1chr1

225997871

+USH2Achr1

216465712

-


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Fusion Gene ORF analysis for EPHX1-USH2A

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-3CDSENST00000272167ENST00000366943EPHX1chr1

225997871

+USH2Achr1

216465712

-
5UTR-3CDSENST00000272167ENST00000307340EPHX1chr1

225997871

+USH2Achr1

216465712

-
5UTR-3CDSENST00000272167ENST00000366942EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000366837ENST00000366943EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000366837ENST00000307340EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000366837ENST00000366942EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000467015ENST00000366943EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000467015ENST00000307340EPHX1chr1

225997871

+USH2Achr1

216465712

-
intron-3CDSENST00000467015ENST00000366942EPHX1chr1

225997871

+USH2Achr1

216465712

-

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 EPHX1-USH2A


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 EPHX1-USH2A


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
EPHX1

P07099

.
FUNCTION: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). Metabolizes the abundant endocannabinoid 2-arachidonoylglycerol (2-AG) to free arachidonic acid (AA) and glycerol (PubMed:24958911). {ECO:0000250|UniProtKB:P07687, ECO:0000269|PubMed:22798687, ECO:0000269|PubMed:24958911}.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.

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 EPHX1-USH2A


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 EPHX1-USH2A


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 EPHX1-USH2A


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 EPHX1-USH2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPHX1C0009405Hereditary Nonpolyposis Colorectal Neoplasms3CLINGEN
HgeneEPHX1C0033578Prostatic Neoplasms3CTD_human
HgeneEPHX1C0376358Malignant neoplasm of prostate3CTD_human
HgeneEPHX1C1112155Hereditary non-polyposis colorectal cancer syndrome3CLINGEN
HgeneEPHX1C1333990Hereditary Nonpolyposis Colorectal Cancer3CLINGEN
HgeneEPHX1C1333991Hereditary Non-Polyposis Colon Cancer Type 23CLINGEN
HgeneEPHX1C1843139Hypercholanemia, Familial3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneEPHX1C2936783Colorectal cancer, hereditary nonpolyposis, type 13CLINGEN
HgeneEPHX1C0024121Lung Neoplasms2CTD_human
HgeneEPHX1C0032914Pre-Eclampsia2CTD_human
HgeneEPHX1C0242379Malignant neoplasm of lung2CTD_human
HgeneEPHX1C0000771Abnormalities, Drug-Induced1CTD_human
HgeneEPHX1C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneEPHX1C0007097Carcinoma1CTD_human
HgeneEPHX1C0007114Malignant neoplasm of skin1CTD_human
HgeneEPHX1C0019193Hepatitis, Toxic1CTD_human
HgeneEPHX1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneEPHX1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneEPHX1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneEPHX1C0024117Chronic Obstructive Airway Disease1CTD_human
HgeneEPHX1C0024299Lymphoma1CTD_human
HgeneEPHX1C0024302Reticulosarcoma1CTD_human
HgeneEPHX1C0024304Lymphoma, Mixed-Cell1CTD_human
HgeneEPHX1C0024305Lymphoma, Non-Hodgkin1CTD_human
HgeneEPHX1C0024306Lymphoma, Undifferentiated1CTD_human
HgeneEPHX1C0024667Animal Mammary Neoplasms1CTD_human
HgeneEPHX1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEPHX1C0026764Multiple Myeloma1CTD_human
HgeneEPHX1C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneEPHX1C0034067Pulmonary Emphysema1CTD_human
HgeneEPHX1C0037286Skin Neoplasms1CTD_human
HgeneEPHX1C0079740High Grade Lymphoma (neoplasm)1CTD_human
HgeneEPHX1C0079741Lymphoma, Intermediate-Grade1CTD_human
HgeneEPHX1C0079747Low Grade Lymphoma (neoplasm)1CTD_human
HgeneEPHX1C0079757Diffuse Mixed-Cell Lymphoma1CTD_human
HgeneEPHX1C0079770Lymphoma, Small Noncleaved-Cell1CTD_human
HgeneEPHX1C0151744Myocardial Ischemia1CTD_human
HgeneEPHX1C0205696Anaplastic carcinoma1CTD_human
HgeneEPHX1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneEPHX1C0205698Undifferentiated carcinoma1CTD_human
HgeneEPHX1C0205699Carcinomatosis1CTD_human
HgeneEPHX1C0221227Centriacinar Emphysema1CTD_human
HgeneEPHX1C0236733Amphetamine-Related Disorders1CTD_human
HgeneEPHX1C0236804Amphetamine Addiction1CTD_human
HgeneEPHX1C0236807Amphetamine Abuse1CTD_human
HgeneEPHX1C0242488Acute Lung Injury1CTD_human
HgeneEPHX1C0264393Panacinar Emphysema1CTD_human
HgeneEPHX1C0345967Malignant mesothelioma1CTD_human
HgeneEPHX1C0860207Drug-Induced Liver Disease1CTD_human
HgeneEPHX1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneEPHX1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneEPHX1C1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneEPHX1C1449862Micronuclei, Genotoxicant-Induced1CTD_human
HgeneEPHX1C1527303Chronic Airflow Obstruction1CTD_human
HgeneEPHX1C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneEPHX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneEPHX1C2239176Liver carcinoma1CTD_human
HgeneEPHX1C2350878Focal Emphysema1CTD_human
HgeneEPHX1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneEPHX1C3714542Lymphoma, Diffuse1CTD_human
HgeneEPHX1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneEPHX1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneEPHX1C4721532Lymphoma, Non-Hodgkin, Familial1CTD_human
TgeneUSH2AC1848634USHER SYNDROME, TYPE IIA26CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneUSH2AC3151138RETINITIS PIGMENTOSA 39 (disorder)11CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneUSH2AC0339534Usher syndrome type 28CLINGEN;GENOMICS_ENGLAND
TgeneUSH2AC0035334Retinitis Pigmentosa3CTD_human;GENOMICS_ENGLAND
TgeneUSH2AC1384666hearing impairment1GENOMICS_ENGLAND
TgeneUSH2AC1510586Autism Spectrum Disorders1CTD_human
TgeneUSH2AC1568249Usher Syndrome, Type II1GENOMICS_ENGLAND