Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ADCK3-EPHX1 (FusionGDB2 ID:HG56997TG2052)

Fusion Gene Summary for ADCK3-EPHX1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADCK3-EPHX1
Fusion gene ID: hg56997tg2052
HgeneTgene
Gene symbol

ADCK3

EPHX1

Gene ID

56997

2052

Gene namecoenzyme Q8Aepoxide hydrolase 1
SynonymsADCK3|ARCA2|CABC1|COQ10D4|COQ8|SCAR9EPHX|EPOX|HYL1|MEH
Cytomap('ADCK3')('EPHX1')

1q42.13

1q42.12

Type of geneprotein-codingprotein-coding
Descriptionatypical kinase COQ8A, mitochondrialaarF domain-containing protein kinase 3atypical kinase ADCK3, mitochondrialchaperone activity of bc1 complex-like, mitochondrialchaperone, ABC1 activity of bc1 complex homologcoenzyme Q protein 8Acoenzyme Q8 homolepoxide hydrolase 1epoxide hydrataseepoxide hydrolase 1 microsomalepoxide hydrolase 1, microsomal (xenobiotic)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000478406, ENST00000366777, 
ENST00000366778, ENST00000458507, 
ENST00000366779, ENST00000433743, 
Fusion gene scores* DoF score3 X 1 X 3=912 X 11 X 7=924
# samples 413
** MAII scorelog2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: ADCK3 [Title/Abstract] AND EPHX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADCK3(227128100)-EPHX1(226032199), # 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
HgeneADCK3

GO:0006468

protein phosphorylation

27499294

HgeneADCK3

GO:0016310

phosphorylation

25498144|27499294

TgeneEPHX1

GO:0097176

epoxide metabolic process

22798687



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
ChimerDB4OVTCGA-61-1998-01AADCK3chr1

227128100

-EPHX1chr1

226032199

+
ChimerDB4OVTCGA-61-1998-01AADCK3chr1

227128100

+EPHX1chr1

226032199

+
ChimerDB4OVTCGA-61-1998ADCK3chr1

227128100

+EPHX1chr1

226032198

+


Top

Fusion Gene ORF analysis for ADCK3-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
3UTR-3CDSENST00000478406ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
3UTR-3CDSENST00000478406ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
3UTR-3CDSENST00000478406ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
3UTR-3CDSENST00000478406ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
3UTR-intronENST00000478406ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
3UTR-intronENST00000478406ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000366777ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000366777ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000366777ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000366777ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000366778ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000366778ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000366778ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000366778ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000458507ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000458507ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-3CDSENST00000458507ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-3CDSENST00000458507ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-intronENST00000366777ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-intronENST00000366777ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-intronENST00000366778ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-intronENST00000366778ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+
5UTR-intronENST00000458507ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
5UTR-intronENST00000458507ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-3CDSENST00000366779ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-3CDSENST00000366779ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-3CDSENST00000366779ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-3CDSENST00000366779ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-3CDSENST00000433743ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-3CDSENST00000433743ENST00000272167ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-3CDSENST00000433743ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-3CDSENST00000433743ENST00000366837ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-intronENST00000366779ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-intronENST00000366779ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+
intron-intronENST00000433743ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032199

+
intron-intronENST00000433743ENST00000467015ADCK3chr1

227128100

+EPHX1chr1

226032198

+

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

Top

Fusion Genomic Features for ADCK3-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)
ADCK3chr1227128100+EPHX1chr1226032198+2.57E-060.9999974
ADCK3chr1227128100+EPHX1chr1226032198+2.57E-060.9999974
ADCK3chr1227128100+EPHX1chr1226032198+2.57E-060.9999974
ADCK3chr1227128100+EPHX1chr1226032198+2.57E-060.9999974


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%

Top

Fusion Protein Features for ADCK3-EPHX1


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/:227128100/:226032199)
- 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
..
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: 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


Top

Fusion Gene Sequence for ADCK3-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.

Top

Fusion Gene PPI Analysis for ADCK3-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


Top

Related Drugs for ADCK3-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

Top

Related Diseases for ADCK3-EPHX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0009405Hereditary Nonpolyposis Colorectal Neoplasms3CLINGEN
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC1112155Hereditary non-polyposis colorectal cancer syndrome3CLINGEN
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer3CLINGEN
TgeneC1333991Hereditary Non-Polyposis Colon Cancer Type 23CLINGEN
TgeneC1843139Hypercholanemia, Familial3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC2936783Colorectal cancer, hereditary nonpolyposis, type 13CLINGEN
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0032914Pre-Eclampsia2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0000771Abnormalities, Drug-Induced1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0007097Carcinoma1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0024117Chronic Obstructive Airway Disease1CTD_human
TgeneC0024299Lymphoma1CTD_human
TgeneC0024302Reticulosarcoma1CTD_human
TgeneC0024304Lymphoma, Mixed-Cell1CTD_human
TgeneC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneC0024306Lymphoma, Undifferentiated1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0034067Pulmonary Emphysema1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0079740High Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079741Lymphoma, Intermediate-Grade1CTD_human
TgeneC0079747Low Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
TgeneC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0221227Centriacinar Emphysema1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0242488Acute Lung Injury1CTD_human
TgeneC0264393Panacinar Emphysema1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneC1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneC1527303Chronic Airflow Obstruction1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2350878Focal Emphysema1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3714542Lymphoma, Diffuse1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human