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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:CPNE1-ERCC6 (FusionGDB2 ID:19011)

Fusion Gene Summary for CPNE1-ERCC6

check button Fusion gene summary
Fusion gene informationFusion gene name: CPNE1-ERCC6
Fusion gene ID: 19011
HgeneTgene
Gene symbol

CPNE1

ERCC6

Gene ID

8904

2074

Gene namecopine 1ERCC excision repair 6, chromatin remodeling factor
SynonymsCOPN1|CPN1ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1
Cytomap

20q11.22

10q11.23

Type of geneprotein-codingprotein-coding
Descriptioncopine-1chromobindin 17copine IDNA excision repair protein ERCC-6ERCC6-PGBD3 fusion proteinATP-dependent helicase ERCC6Chimeric CSB-PGBD3 proteinChimeric ERCC6-PGBD3 proteinCockayne syndrome group B proteincockayne syndrome protein CSBexcision repair cross-complementation group
Modification date2020032020200322
UniProtAcc

Q99829

Q5T890

Ensembl transtripts involved in fusion geneENST00000317619, ENST00000352393, 
ENST00000397442, ENST00000397443, 
ENST00000397445, ENST00000397446, 
ENST00000317677, ENST00000475146, 
ENST00000355832, ENST00000465653, 
ENST00000542458, 
Fusion gene scores* DoF score18 X 14 X 7=17644 X 3 X 3=36
# samples 224
** MAII scorelog2(22/1764*10)=-3.00327513203286
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CPNE1 [Title/Abstract] AND ERCC6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCPNE1(34252681)-ERCC6(50732823), # samples:1
CPNE1(34252723)-ERCC6(50732823), # samples:1
CPNE1(34252682)-ERCC6(50732823), # samples:1
CPNE1(34252724)-ERCC6(50732823), # 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
HgeneCPNE1

GO:0043392

negative regulation of DNA binding

18212740

HgeneCPNE1

GO:0045666

positive regulation of neuron differentiation

23263657

HgeneCPNE1

GO:0051897

positive regulation of protein kinase B signaling

23263657

HgeneCPNE1

GO:1990138

neuron projection extension

23263657

TgeneERCC6

GO:0000012

single strand break repair

29545921

TgeneERCC6

GO:0006979

response to oxidative stress

16107709

TgeneERCC6

GO:0009411

response to UV

16916636

TgeneERCC6

GO:0032784

regulation of DNA-templated transcription, elongation

9326587

TgeneERCC6

GO:0032786

positive regulation of DNA-templated transcription, elongation

9326587

TgeneERCC6

GO:0097680

double-strand break repair via classical nonhomologous end joining

29545921


check buttonFusion gene breakpoints across CPNE1 (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 ERCC6 (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-A7-A2KD-01ACPNE1chr20

34252682

-ERCC6chr10

50732823

-
ChimerDB4BRCATCGA-A7-A2KD-01ACPNE1chr20

34252724

-ERCC6chr10

50732823

-
ChimerDB4BRCATCGA-A7-A2KDCPNE1chr20

34252681

-ERCC6chr10

50732823

-
ChimerDB4BRCATCGA-A7-A2KDCPNE1chr20

34252723

-ERCC6chr10

50732823

-


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Fusion Gene ORF analysis for CPNE1-ERCC6

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-3CDSENST00000317619ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000317619ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000352393ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000352393ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397442ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397442ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397443ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397443ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397445ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397445ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397446ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-3CDSENST00000397446ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
5UTR-intronENST00000317619ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000317619ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000317619ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000317619ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000352393ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000352393ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000352393ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000352393ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000397442ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-intronENST00000397442ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
5UTR-intronENST00000397442ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-intronENST00000397442ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
5UTR-intronENST00000397443ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000397443ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000397443ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000397443ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000397445ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000397445ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000397445ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
5UTR-intronENST00000397445ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
5UTR-intronENST00000397446ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-intronENST00000397446ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
5UTR-intronENST00000397446ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
5UTR-intronENST00000397446ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000317619ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000317619ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000317677ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-3CDSENST00000317677ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000317677ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-3CDSENST00000317677ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000352393ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000352393ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000397442ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-3CDSENST00000397442ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-3CDSENST00000397443ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000397443ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000397445ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000397445ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-3CDSENST00000397446ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-3CDSENST00000397446ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-3CDSENST00000475146ENST00000355832CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-3CDSENST00000475146ENST00000355832CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-3CDSENST00000475146ENST00000355832CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-3CDSENST00000475146ENST00000355832CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000317619ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000317619ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000317619ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000317619ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000317677ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000352393ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000352393ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000352393ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000352393ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000397442ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000397442ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000397442ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000397442ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000397443ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000397443ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000397443ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000397443ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000397445ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000397445ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000397445ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000397445ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000397446ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000397446ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000397446ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000397446ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000465653CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000465653CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000465653CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000465653CPNE1chr20

34252723

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000542458CPNE1chr20

34252682

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000542458CPNE1chr20

34252724

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000542458CPNE1chr20

34252681

-ERCC6chr10

50732823

-
intron-intronENST00000475146ENST00000542458CPNE1chr20

34252723

-ERCC6chr10

50732823

-

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 CPNE1-ERCC6


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 CPNE1-ERCC6


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/:34252681/:50732823)
- 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
CPNE1

Q99829

ERCC6

Q5T890

FUNCTION: Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF-alpha receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:9430674, PubMed:19539605). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740). {ECO:0000269|PubMed:12522145, ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740, ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657, ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}.FUNCTION: May be involved in early DNA damage response. {ECO:0000269|PubMed:24507776}.

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 CPNE1-ERCC6


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 CPNE1-ERCC6


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 CPNE1-ERCC6


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 CPNE1-ERCC6


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