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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 8262

FusionGeneSummary for CPNE1_DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: CPNE1_DMD
Fusion gene ID: 8262
HgeneTgene
Gene symbol

CPNE1

DMD

Gene ID

8904

1756

Gene namecopine 1dystrophin
SynonymsCOPN1|CPN1BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap

20q11.22

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptioncopine-1chromobindin 17copine Idystrophin
Modification date2018052320180522
UniProtAcc

Q99829

P11532

Ensembl transtripts involved in fusion geneENST00000352393, ENST00000317677, 
ENST00000397445, ENST00000317619, 
ENST00000397443, ENST00000397446, 
ENST00000397442, ENST00000475146, 
ENST00000378707, ENST00000359836, 
ENST00000541735, ENST00000343523, 
ENST00000378677, ENST00000357033, 
ENST00000474231, ENST00000378723, 
ENST00000378702, ENST00000361471, 
ENST00000378680, ENST00000288447, 
ENST00000445312, 
Fusion gene scores* DoF score9 X 7 X 6=37816 X 18 X 7=2016
# samples 918
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneDMD

GO:0043043

peptide biosynthetic process

16000376


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-75-5146-01ACPNE1chr20

34246852

-DMDchrX

32408298

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000352393ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000352393ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000317677ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000397445ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
5UTR-intronENST00000317619ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397443ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397446ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
intron-intronENST00000397442ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000378707CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000359836CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000541735CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000343523CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000378677CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000357033CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000474231CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000378723CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000378702CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000361471CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000378680CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000288447CPNE1chr20

34246852

-DMDchrX

32408298

-
5CDS-intronENST00000475146ENST00000445312CPNE1chr20

34246852

-DMDchrX

32408298

-

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FusionProtFeatures for CPNE1_DMD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPNE1

Q99829

DMD

P11532

Calcium-dependent phospholipid-binding protein thatplays a role in calcium-mediated intracellular processes(PubMed:14674885). Involved in the TNF-alpha receptor signalingpathway in a calcium-dependent manner (PubMed:14674885). Exhibitscalcium-dependent phospholipid binding properties (PubMed:9430674,PubMed:19539605). Plays a role in neuronal progenitor celldifferentiation; induces neurite outgrowth via a AKT-dependentsignaling cascade and calcium-independent manner (PubMed:23263657,PubMed:25450385). May recruit target proteins to the cell membranein a calcium-dependent manner (PubMed:12522145). May function inmembrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducingendoprotease processing of the transcription factor NF-kappa-Bp65/RELA subunit (PubMed:18212740). Also induces endoproteaseprocessing 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}.

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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FusionGeneSequence for CPNE1_DMD


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CPNE1_DMD


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
CPNE1UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25DMDDTNA, KCNJ12, KCNJ4, SNTA1, SNTB2, SNTB1, DAG1, ACTA1, MAP3K5, TERF1, TERF2, DISC1, TRAF3IP1, ARRB1, NFX1, MARK2, APP, NEDD4, PTRF, AHNAK, ALB, NOS1, CDC25A, DTNB, CTNNAL1, HAUS1, LPAR6, CTNNA1, XPO1, NUPL1, KIF15, GAN, MCM2, TENC1, TNS1, TNS3, SNTG2, LONRF3, HAUS4, UTRN, OSBPL1A, LRRC8E, KIF23, SIRT2, TRIM41, IFIT5, WDR54, MPP6, TRIM25


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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RelatedDrugs for CPNE1_DMD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCPNE1Q99829DB00277TheophyllineCopine-1 {ECO:0000305}small moleculeapproved

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RelatedDiseases for CPNE1_DMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDMDC0013264Muscular Dystrophy, Duchenne16CTD_human;ORPHANET;UNIPROT
TgeneDMDC0026850Muscular Dystrophy4CTD_human;HPO
TgeneDMDC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;UNIPROT
TgeneDMDC0878544Cardiomyopathies3CTD_human;HPO
TgeneDMDC0006663Calcinosis1CTD_human
TgeneDMDC0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneDMDC0018800Cardiomegaly1CTD_human
TgeneDMDC0023269leiomyosarcoma1CTD_human
TgeneDMDC0026851Muscular Dystrophy, Animal1CTD_human
TgeneDMDC0027540Necrosis1CTD_human
TgeneDMDC0027626Neoplasm Invasiveness1CTD_human
TgeneDMDC0027627Neoplasm Metastasis1CTD_human
TgeneDMDC0032460Polycystic Ovary Syndrome1CTD_human
TgeneDMDC0038220Status Epilepticus1CTD_human
TgeneDMDC0151786Muscle Weakness1CTD_human;HPO
TgeneDMDC0206656Rhabdomyosarcoma, Embryonal1CTD_human
TgeneDMDC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneDMDC0242973Ventricular Dysfunction1CTD_human
TgeneDMDC0917713Becker Muscular Dystrophy1ORPHANET;UNIPROT