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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:COQ2-NEDD4L (FusionGDB2 ID:18684)

Fusion Gene Summary for COQ2-NEDD4L

check button Fusion gene summary
Fusion gene informationFusion gene name: COQ2-NEDD4L
Fusion gene ID: 18684
HgeneTgene
Gene symbol

COQ2

NEDD4L

Gene ID

27235

23327

Gene namecoenzyme Q2, polyprenyltransferaseNEDD4 like E3 ubiquitin protein ligase
SynonymsCL640|COQ10D1|MSA1|PHB:PPTNEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2
Cytomap

4q21.22-q21.23

18q21.31

Type of geneprotein-codingprotein-coding
Description4-hydroxybenzoate polyprenyltransferase, mitochondrial4-HB polyprenyltransferase4-hydroxybenzoate decaprenyltransferasePHB:polyprenyltransferasecoenzyme Q2 4-hydroxybenzoate polyprenyltransferasecoenzyme Q2 homolog, prenyltransferasepara-hydroxybenzE3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligaseubiquitin-protein ligase Rsp5
Modification date2020031320200329
UniProtAcc

Q96H96

Q96PU5

Ensembl transtripts involved in fusion geneENST00000311461, ENST00000311469, 
ENST00000439031, ENST00000514935, 
ENST00000256830, ENST00000256832, 
ENST00000356462, ENST00000357895, 
ENST00000382850, ENST00000400345, 
ENST00000431212, ENST00000435432, 
ENST00000456173, ENST00000456986, 
ENST00000586263, ENST00000588516, 
ENST00000589054, 
Fusion gene scores* DoF score3 X 3 X 2=1827 X 28 X 6=4536
# samples 332
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(32/4536*10)=-3.82527683005487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COQ2 [Title/Abstract] AND NEDD4L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOQ2(84200101)-NEDD4L(56008270), # 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
HgeneCOQ2

GO:0006744

ubiquinone biosynthetic process

15153069

TgeneNEDD4L

GO:0003254

regulation of membrane depolarization

15217910

TgeneNEDD4L

GO:0006511

ubiquitin-dependent protein catabolic process

21463633

TgeneNEDD4L

GO:0010038

response to metal ion

11244092

TgeneNEDD4L

GO:0016567

protein ubiquitination

15217910|25631046

TgeneNEDD4L

GO:0034765

regulation of ion transmembrane transport

17289006

TgeneNEDD4L

GO:0042391

regulation of membrane potential

17289006

TgeneNEDD4L

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

21463633

TgeneNEDD4L

GO:0060306

regulation of membrane repolarization

21463633

TgeneNEDD4L

GO:0070936

protein K48-linked ubiquitination

21463633

TgeneNEDD4L

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

TgeneNEDD4L

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

21463633

TgeneNEDD4L

GO:1901380

negative regulation of potassium ion transmembrane transport

21463633

TgeneNEDD4L

GO:1902306

negative regulation of sodium ion transmembrane transport

15217910

TgeneNEDD4L

GO:1903861

positive regulation of dendrite extension

23999003

TgeneNEDD4L

GO:2000009

negative regulation of protein localization to cell surface

21463633

TgeneNEDD4L

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

15217910


check buttonFusion gene breakpoints across COQ2 (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 NEDD4L (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
ChimerDB4STADTCGA-BR-8058-01ACOQ2chr4

84200101

-NEDD4Lchr18

56008270

+


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Fusion Gene ORF analysis for COQ2-NEDD4L

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-intronENST00000311461ENST00000256830COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000256832COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000356462COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000357895COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000382850COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000400345COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000431212COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000435432COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000456173COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000456986COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000586263COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000588516COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311461ENST00000589054COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000256830COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000256832COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000356462COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000357895COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000382850COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000400345COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000431212COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000435432COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000456173COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000456986COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000586263COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000588516COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000311469ENST00000589054COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000256830COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000256832COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000356462COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000357895COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000382850COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000400345COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000431212COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000435432COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000456173COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000456986COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000586263COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000588516COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5CDS-intronENST00000439031ENST00000589054COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000256830COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000256832COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000356462COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000357895COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000382850COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000400345COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000431212COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000435432COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000456173COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000456986COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000586263COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000588516COQ2chr4

84200101

-NEDD4Lchr18

56008270

+
5UTR-intronENST00000514935ENST00000589054COQ2chr4

84200101

-NEDD4Lchr18

56008270

+

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 COQ2-NEDD4L


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)
COQ2chr484200100-NEDD4Lchr1856008269+0.0241822250.9758178
COQ2chr484200100-NEDD4Lchr1856008269+0.0241822250.9758178

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.
genomic feature of top 1%

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Fusion Protein Features for COQ2-NEDD4L


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/:84200101/:56008270)
- 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
COQ2

Q96H96

NEDD4L

Q96PU5

FUNCTION: Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate. {ECO:0000255|HAMAP-Rule:MF_03189, ECO:0000269|PubMed:15153069, ECO:0000269|PubMed:16400613, ECO:0000269|PubMed:17374725, ECO:0000269|PubMed:27493029}.FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5 (PubMed:26363003, PubMed:27445338). Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Involved in the regulation of TOR signaling (PubMed:27694961). Ubiquitinates and regulates protein levels of NTRK1 once this one is activated by NGF (PubMed:27445338). {ECO:0000250|UniProtKB:Q8CFI0, ECO:0000269|PubMed:12911626, ECO:0000269|PubMed:15040001, ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15489223, ECO:0000269|PubMed:15496141, ECO:0000269|PubMed:15576372, ECO:0000269|PubMed:19144635, ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27445338, ECO:0000269|PubMed:27694961}.

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 COQ2-NEDD4L


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 COQ2-NEDD4L


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 COQ2-NEDD4L


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 COQ2-NEDD4L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource