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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: 18265

FusionGeneSummary for KCNIP3_PDE2A

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNIP3_PDE2A
Fusion gene ID: 18265
HgeneTgene
Gene symbol

KCNIP3

PDE2A

Gene ID

30818

5138

Gene namepotassium voltage-gated channel interacting protein 3phosphodiesterase 2A
SynonymsCSEN|DREAM|KCHIP3CGS-PDE|PDE2A1|PED2A4|cGSPDE
Cytomap

2q11.1

11q13.4

Type of geneprotein-codingprotein-coding
DescriptioncalsenilinA-type potassium channel modulatory protein 3DRE-antagonist modulatorKv channel interacting protein 3, calsenilincalsenilin, presenilin-binding protein, EF hand transcription factorkv channel-interacting protein 3potassium channel interactcGMP-dependent 3',5'-cyclic phosphodiesterasecGMP-stimulated phosphodiesterase 1cGMP-stimulated phosphodiesterase 2cGMP-stimulated phosphodiesterase 4cyclic GMP-stimulated phosphodiesterasephosphodiesterase 2A, cGMP-stimulated
Modification date2018052220180519
UniProtAcc

Q9Y2W7

O00408

Ensembl transtripts involved in fusion geneENST00000295225, ENST00000377181, 
ENST00000360990, ENST00000468529, 
ENST00000334456, ENST00000376450, 
ENST00000444035, ENST00000544570, 
ENST00000418754, ENST00000540345, 
ENST00000540380, 
Fusion gene scores* DoF score2 X 3 X 1=69 X 5 X 6=270
# samples 39
** MAII scorelog2(3/6*10)=2.32192809488736log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNIP3 [Title/Abstract] AND PDE2A [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
TgenePDE2A

GO:0000122

negative regulation of transcription by RNA polymerase II

17329248

TgenePDE2A

GO:0006198

cAMP catabolic process

15938621|17704206

TgenePDE2A

GO:0033159

negative regulation of protein import into nucleus, translocation

17329248

TgenePDE2A

GO:0036006

cellular response to macrophage colony-stimulating factor stimulus

14687666

TgenePDE2A

GO:0043951

negative regulation of cAMP-mediated signaling

17329248

TgenePDE2A

GO:0046069

cGMP catabolic process

15938621|19828435

TgenePDE2A

GO:0071320

cellular response to cAMP

17329248

TgenePDE2A

GO:0071321

cellular response to cGMP

17704206|19828435

TgenePDE2A

GO:1904613

cellular response to 2,3,7,8-tetrachlorodibenzodioxine

17329248


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
ChiTaRS3.1AB209076KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
* 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-intronENST00000295225ENST00000334456KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000376450KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000444035KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000544570KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000418754KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000540345KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000295225ENST00000540380KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000334456KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000376450KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000444035KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000544570KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000418754KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000540345KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000377181ENST00000540380KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000334456KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000376450KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000444035KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000544570KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000418754KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000540345KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000360990ENST00000540380KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000334456KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000376450KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000444035KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000544570KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000418754KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000540345KCNIP3chr2

95979644

+PDE2Achr11

72361943

-
intron-intronENST00000468529ENST00000540380KCNIP3chr2

95979644

+PDE2Achr11

72361943

-

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FusionProtFeatures for KCNIP3_PDE2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNIP3

Q9Y2W7

PDE2A

O00408

Calcium-dependent transcriptional repressor that bindsto the DRE element of genes including PDYN and FOS. Affinity forDNA is reduced upon binding to calcium and enhanced by binding tomagnesium. Seems to be involved in nociception (By similarity).{ECO:0000250|UniProtKB:Q9QXT8}. Regulatory subunit of Kv4/D (Shal)-type voltage-gatedrapidly inactivating A-type potassium channels, such asKCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at thecell membrane, gating characteristics, inactivation kinetics andrate of recovery from inactivation in a calcium-dependent andisoform-specific manner. {ECO:0000269|PubMed:10676964,ECO:0000269|PubMed:12829703, ECO:0000269|PubMed:15485870,ECO:0000269|PubMed:16123112, ECO:0000269|PubMed:18957440}. May play a role in the regulation of PSEN2 proteolyticprocessing and apoptosis. Together with PSEN2 involved inmodulation of amyloid-beta formation.{ECO:0000269|PubMed:11259376, ECO:0000269|PubMed:11988022,ECO:0000269|PubMed:9771752}.

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 KCNIP3_PDE2A


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 KCNIP3_PDE2A


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 KCNIP3_PDE2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePDE2AO00408DB08811TofisopamcGMP-dependent 3',5'-cyclic phosphodiesterasesmall moleculeapproved

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RelatedDiseases for KCNIP3_PDE2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDE2AC1458155Mammary Neoplasms1CTD_human