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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: 8267

FusionGeneSummary for CPNE1_PAPD4

check button Fusion gene summary
Fusion gene informationFusion gene name: CPNE1_PAPD4
Fusion gene ID: 8267
HgeneTgene
Gene symbol

CPNE1

PAPD4

Gene ID

8904

Gene namecopine 1
SynonymsCOPN1|CPN1
Cytomap

20q11.22

Type of geneprotein-coding
Descriptioncopine-1chromobindin 17copine I
Modification date20180523
UniProtAcc

Q99829

Ensembl transtripts involved in fusion geneENST00000352393, ENST00000317677, 
ENST00000397445, ENST00000317619, 
ENST00000397443, ENST00000397446, 
ENST00000397442, ENST00000475146, 
ENST00000453514, ENST00000423041, 
ENST00000504233, ENST00000428308, 
ENST00000502269, ENST00000296783, 
Fusion gene scores* DoF score9 X 7 X 6=3785 X 5 X 2=50
# samples 95
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: CPNE1 [Title/Abstract] AND PAPD4 [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


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
ChiTaRS3.1AI537252CPNE1chr20

34240010

+PAPD4chr5

78965554

-
* 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
intron-intronENST00000352393ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000352393ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000352393ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000352393ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000352393ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000352393ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317677ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397445ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000317619ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397443ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397446ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000397442ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000453514CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000423041CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000504233CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000428308CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000502269CPNE1chr20

34240010

+PAPD4chr5

78965554

-
intron-intronENST00000475146ENST00000296783CPNE1chr20

34240010

+PAPD4chr5

78965554

-

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FusionProtFeatures for CPNE1_PAPD4


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

Q99829

PAPD4

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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_PAPD4


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_PAPD4


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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RelatedDrugs for CPNE1_PAPD4


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_PAPD4


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