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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:DHCR24-EPHX1 (FusionGDB2 ID:22495)

Fusion Gene Summary for DHCR24-EPHX1

check button Fusion gene summary
Fusion gene informationFusion gene name: DHCR24-EPHX1
Fusion gene ID: 22495
HgeneTgene
Gene symbol

DHCR24

EPHX1

Gene ID

1718

2052

Gene name24-dehydrocholesterol reductaseepoxide hydrolase 1
SynonymsDCE|Nbla03646|SELADIN1|seladin-1EPHX|EPOX|HYL1|MEH
Cytomap

1p32.3

1q42.12

Type of geneprotein-codingprotein-coding
Descriptiondelta(24)-sterol reductase3 beta-hydroxysterol delta 24-reductasedesmosterol-to-cholesterol enzymediminuto/dwarf1 homologseladin 1selective AD indicator 1epoxide hydrolase 1epoxide hydrataseepoxide hydrolase 1 microsomalepoxide hydrolase 1, microsomal (xenobiotic)
Modification date2020032020200313
UniProtAcc

Q15392

P07099

Ensembl transtripts involved in fusion geneENST00000371269, ENST00000537443, 
ENST00000535035, 		ENST00000272167, 
ENST00000366837, ENST00000467015, 
Fusion gene scores* DoF score21 X 16 X 8=268812 X 11 X 7=924
# samples 2213
** MAII scorelog2(22/2688*10)=-3.6109577092541
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/924*10)=-2.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DHCR24 [Title/Abstract] AND EPHX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDHCR24(55315306)-EPHX1(225997794), # samples:5
Anticipated loss of major functional domain due to fusion event.DHCR24-EPHX1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DHCR24-EPHX1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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
HgeneDHCR24

GO:0043066

negative regulation of apoptotic process

15688385

HgeneDHCR24

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

11007892

TgeneEPHX1

GO:0097176

epoxide metabolic process

22798687


check buttonFusion gene breakpoints across DHCR24 (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 EPHX1 (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
ChimerDB4LIHCTCGA-EP-A3JL-01ADHCR24chr1

55315306

-EPHX1chr1

225997794

+
ChimerDB4LIHCTCGA-G3-A25Z-01ADHCR24chr1

55315306

-EPHX1chr1

225997794

+
ChimerDB4ACCTCGA-OR-A5JY-01ADHCR24chr1

55315306

-EPHX1chr1

225997794

+
ChimerDB4ACCTCGA-OR-A5K2-01ADHCR24chr1

55315306

-EPHX1chr1

225997794

+
ChimerDB4ACCTCGA-OR-A5LH-01ADHCR24chr1

55315306

-EPHX1chr1

225997794

+


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Fusion Gene ORF analysis for DHCR24-EPHX1

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
Frame-shiftENST00000371269ENST00000272167DHCR24chr1

55315306

-EPHX1chr1

225997794

+
5CDS-intronENST00000371269ENST00000366837DHCR24chr1

55315306

-EPHX1chr1

225997794

+
5CDS-intronENST00000371269ENST00000467015DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-3CDSENST00000537443ENST00000272167DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-intronENST00000537443ENST00000366837DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-intronENST00000537443ENST00000467015DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-3CDSENST00000535035ENST00000272167DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-intronENST00000535035ENST00000366837DHCR24chr1

55315306

-EPHX1chr1

225997794

+
intron-intronENST00000535035ENST00000467015DHCR24chr1

55315306

-EPHX1chr1

225997794

+

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 DHCR24-EPHX1


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)
DHCR24chr155315305-EPHX1chr1225997796+0.0061314950.9938685
DHCR24chr155315305-EPHX1chr1225997796+0.0061314950.9938685

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 DHCR24-EPHX1


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
DHCR24

Q15392

EPHX1

P07099

FUNCTION: Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:25637936, PubMed:22178193). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892). {ECO:0000269|PubMed:11007892, ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:21671375, ECO:0000269|PubMed:22010141, ECO:0000269|PubMed:22178193, ECO:0000269|PubMed:25637936}.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}.

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 DHCR24-EPHX1


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 DHCR24-EPHX1


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 DHCR24-EPHX1


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 DHCR24-EPHX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDHCR24C1865596Desmosterolosis5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDHCR24C0002395Alzheimer's Disease1CTD_human
HgeneDHCR24C0011265Presenile dementia1CTD_human
HgeneDHCR24C0034362Q Fever1CTD_human
HgeneDHCR24C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneDHCR24C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneDHCR24C0519066Acute Q fever1CTD_human
HgeneDHCR24C0546126Acute Confusional Senile Dementia1CTD_human
HgeneDHCR24C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneDHCR24C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneDHCR24C1443892Chronic Q Fever1CTD_human
HgeneDHCR24C1510586Autism Spectrum Disorders1CTD_human
HgeneDHCR24C2973787Coxiella burnetii Infection1CTD_human
TgeneEPHX1C0009405Hereditary Nonpolyposis Colorectal Neoplasms3CLINGEN
TgeneEPHX1C0033578Prostatic Neoplasms3CTD_human
TgeneEPHX1C0376358Malignant neoplasm of prostate3CTD_human
TgeneEPHX1C1112155Hereditary non-polyposis colorectal cancer syndrome3CLINGEN
TgeneEPHX1C1333990Hereditary Nonpolyposis Colorectal Cancer3CLINGEN
TgeneEPHX1C1333991Hereditary Non-Polyposis Colon Cancer Type 23CLINGEN
TgeneEPHX1C1843139Hypercholanemia, Familial3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneEPHX1C2936783Colorectal cancer, hereditary nonpolyposis, type 13CLINGEN
TgeneEPHX1C0024121Lung Neoplasms2CTD_human
TgeneEPHX1C0032914Pre-Eclampsia2CTD_human
TgeneEPHX1C0242379Malignant neoplasm of lung2CTD_human
TgeneEPHX1C0000771Abnormalities, Drug-Induced1CTD_human
TgeneEPHX1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneEPHX1C0007097Carcinoma1CTD_human
TgeneEPHX1C0007114Malignant neoplasm of skin1CTD_human
TgeneEPHX1C0019193Hepatitis, Toxic1CTD_human
TgeneEPHX1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneEPHX1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneEPHX1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneEPHX1C0024117Chronic Obstructive Airway Disease1CTD_human
TgeneEPHX1C0024299Lymphoma1CTD_human
TgeneEPHX1C0024302Reticulosarcoma1CTD_human
TgeneEPHX1C0024304Lymphoma, Mixed-Cell1CTD_human
TgeneEPHX1C0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneEPHX1C0024306Lymphoma, Undifferentiated1CTD_human
TgeneEPHX1C0024667Animal Mammary Neoplasms1CTD_human
TgeneEPHX1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneEPHX1C0026764Multiple Myeloma1CTD_human
TgeneEPHX1C0026998Acute Myeloid Leukemia, M11CTD_human
TgeneEPHX1C0034067Pulmonary Emphysema1CTD_human
TgeneEPHX1C0037286Skin Neoplasms1CTD_human
TgeneEPHX1C0079740High Grade Lymphoma (neoplasm)1CTD_human
TgeneEPHX1C0079741Lymphoma, Intermediate-Grade1CTD_human
TgeneEPHX1C0079747Low Grade Lymphoma (neoplasm)1CTD_human
TgeneEPHX1C0079757Diffuse Mixed-Cell Lymphoma1CTD_human
TgeneEPHX1C0079770Lymphoma, Small Noncleaved-Cell1CTD_human
TgeneEPHX1C0151744Myocardial Ischemia1CTD_human
TgeneEPHX1C0205696Anaplastic carcinoma1CTD_human
TgeneEPHX1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneEPHX1C0205698Undifferentiated carcinoma1CTD_human
TgeneEPHX1C0205699Carcinomatosis1CTD_human
TgeneEPHX1C0221227Centriacinar Emphysema1CTD_human
TgeneEPHX1C0236733Amphetamine-Related Disorders1CTD_human
TgeneEPHX1C0236804Amphetamine Addiction1CTD_human
TgeneEPHX1C0236807Amphetamine Abuse1CTD_human
TgeneEPHX1C0242488Acute Lung Injury1CTD_human
TgeneEPHX1C0264393Panacinar Emphysema1CTD_human
TgeneEPHX1C0345967Malignant mesothelioma1CTD_human
TgeneEPHX1C0860207Drug-Induced Liver Disease1CTD_human
TgeneEPHX1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneEPHX1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneEPHX1C1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneEPHX1C1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneEPHX1C1527303Chronic Airflow Obstruction1CTD_human
TgeneEPHX1C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneEPHX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneEPHX1C2239176Liver carcinoma1CTD_human
TgeneEPHX1C2350878Focal Emphysema1CTD_human
TgeneEPHX1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneEPHX1C3714542Lymphoma, Diffuse1CTD_human
TgeneEPHX1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneEPHX1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneEPHX1C4721532Lymphoma, Non-Hodgkin, Familial1CTD_human