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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:CLPB-PDE2A (FusionGDB2 ID:17314)

Fusion Gene Summary for CLPB-PDE2A

check button Fusion gene summary
Fusion gene informationFusion gene name: CLPB-PDE2A
Fusion gene ID: 17314
HgeneTgene
Gene symbol

CLPB

PDE2A

Gene ID

81570

5138

Gene namecaseinolytic mitochondrial matrix peptidase chaperone subunit Bphosphodiesterase 2A
SynonymsANKCLB|HSP78|MEGCANN|MGCA7|SKD3CGS-PDE|PDE2A1|PED2A4|cGSPDE
Cytomap

11q13.4

11q13.4

Type of geneprotein-codingprotein-coding
Descriptioncaseinolytic peptidase B protein homologClpB caseinolytic peptidase B homologClpB homolog, mitochondrial AAA ATPase chaperoninankyrin-repeat containing bacterial clp fusionsuppressor of potassium transport defect 3testicular secretory protein Li 11cGMP-dependent 3',5'-cyclic phosphodiesterasecGMP-stimulated phosphodiesterase 1cGMP-stimulated phosphodiesterase 2cGMP-stimulated phosphodiesterase 4cyclic GMP-stimulated phosphodiesterasephosphodiesterase 2A, cGMP-stimulated
Modification date2020031320200313
UniProtAcc

Q9H078

.
Ensembl transtripts involved in fusion geneENST00000294053, ENST00000538039, 
ENST00000437826, ENST00000340729, 
ENST00000543042, ENST00000445069, 
ENST00000538021, ENST00000542555, 
ENST00000334456, ENST00000376450, 
ENST00000444035, ENST00000544570, 
ENST00000418754, ENST00000540345, 
ENST00000540380, 
Fusion gene scores* DoF score17 X 12 X 7=142811 X 7 X 7=539
# samples 1812
** MAII scorelog2(18/1428*10)=-2.98792716769943
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/539*10)=-2.16725086714399
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLPB [Title/Abstract] AND PDE2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCLPB(72069924)-PDE2A(72353370), # samples:2
Anticipated loss of major functional domain due to fusion event.CLPB-PDE2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CLPB-PDE2A seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CLPB-PDE2A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CLPB-PDE2A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneCLPB

GO:0034605

cellular response to heat

2745427

TgenePDE2A

GO:0000122

negative regulation of transcription by RNA polymerase II

17329248

TgenePDE2A

GO:0007193

adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway

17329248

TgenePDE2A

GO:0036006

cellular response to macrophage colony-stimulating factor stimulus

14687666

TgenePDE2A

GO:0046069

cGMP catabolic process

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 buttonFusion gene breakpoints across CLPB (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 PDE2A (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-LL-A441-01ACLPBchr11

72069924

-PDE2Achr11

72353370

-
ChimerDB4BRCATCGA-LL-A441-01ACLPBchr11

72069924

-PDE2Achr11

72353370

-


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Fusion Gene ORF analysis for CLPB-PDE2A

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
Frame-shiftENST00000294053ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000294053ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000294053ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000294053ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000294053ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000294053ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000294053ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000538039ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000538039ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000437826ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000437826ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000340729ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000340729ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000543042ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000543042ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
Frame-shiftENST00000445069ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
5CDS-intronENST00000445069ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000538021ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-intronENST00000538021ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000334456CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000376450CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000444035CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000544570CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000418754CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-3CDSENST00000542555ENST00000540345CLPBchr11

72069924

-PDE2Achr11

72353370

-
intron-intronENST00000542555ENST00000540380CLPBchr11

72069924

-PDE2Achr11

72353370

-

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 CLPB-PDE2A


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 CLPB-PDE2A


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9H078

.
FUNCTION: May function as a regulatory ATPase and be related to secretion/protein trafficking process. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and proinflammatory cytokine IL6 (PubMed:31522117). {ECO:0000269|PubMed:31522117}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 CLPB-PDE2A


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 CLPB-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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Related Drugs for CLPB-PDE2A


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 CLPB-PDE2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLPBC42253933-methylglutaconic aciduria type 73CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCLPBC0014548Epilepsy, Generalized1GENOMICS_ENGLAND
HgeneCLPBC0036572Seizures1GENOMICS_ENGLAND
TgenePDE2AC0006142Malignant neoplasm of breast1CTD_human
TgenePDE2AC0678222Breast Carcinoma1CTD_human
TgenePDE2AC1257931Mammary Neoplasms, Human1CTD_human
TgenePDE2AC1458155Mammary Neoplasms1CTD_human
TgenePDE2AC4704874Mammary Carcinoma, Human1CTD_human