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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: 27489

FusionGeneSummary for PLCB2_JUP

check button Fusion gene summary
Fusion gene informationFusion gene name: PLCB2_JUP
Fusion gene ID: 27489
HgeneTgene
Gene symbol

PLCB2

JUP

Gene ID

5330

3728

Gene namephospholipase C beta 2junction plakoglobin
SynonymsPLC-beta-2CTNNG|DP3|DPIII|PDGB|PKGB
Cytomap

15q15.1

17q21.2

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2phosphoinositide phospholipase C-beta-2junction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3
Modification date2018051920180523
UniProtAcc

Q00722

P14923

Ensembl transtripts involved in fusion geneENST00000260402, ENST00000557821, 
ENST00000456256, ENST00000543785, 
ENST00000540235, ENST00000393930, 
ENST00000393931, ENST00000310706, 
Fusion gene scores* DoF score3 X 3 X 2=1821 X 22 X 8=3696
# samples 329
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(29/3696*10)=-3.67183995140112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLCB2 [Title/Abstract] AND JUP [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
TgeneJUP

GO:0002159

desmosome assembly

22889254

TgeneJUP

GO:0042127

regulation of cell proliferation

17924338

TgeneJUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

TgeneJUP

GO:0050982

detection of mechanical stimulus

18937352

TgeneJUP

GO:0051091

positive regulation of DNA binding transcription factor activity

14661054

TgeneJUP

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneJUP

GO:0098609

cell-cell adhesion

18937352


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
ChiTaRS3.1BF893068PLCB2chr15

40584336

-JUPchr17

39919485

-
* 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-intronENST00000260402ENST00000540235PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000260402ENST00000393930PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000260402ENST00000393931PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000260402ENST00000310706PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000557821ENST00000540235PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000557821ENST00000393930PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000557821ENST00000393931PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000557821ENST00000310706PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000456256ENST00000540235PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000456256ENST00000393930PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000456256ENST00000393931PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000456256ENST00000310706PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000543785ENST00000540235PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000543785ENST00000393930PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000543785ENST00000393931PLCB2chr15

40584336

-JUPchr17

39919485

-
intron-intronENST00000543785ENST00000310706PLCB2chr15

40584336

-JUPchr17

39919485

-

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FusionProtFeatures for PLCB2_JUP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLCB2

Q00722

JUP

P14923

The production of the second messenger moleculesdiacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) ismediated by activated phosphatidylinositol-specific phospholipaseC enzymes. {ECO:0000269|PubMed:1644792}. Common junctional plaque protein. The membrane-associated plaques are architectural elements in an importantstrategic position to influence the arrangement and function ofboth the cytoskeleton and the cells within the tissue. Thepresence of plakoglobin in both the desmosomes and in theintermediate junctions suggests that it plays a central role inthe structure and function of submembranous plaques. Acts as asubstrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-cateninin E-cadherin/catenin adhesion complexes which are proposed tocouple cadherins to the actin cytoskeleton (By similarity).{ECO:0000250}.

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 PLCB2_JUP


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 PLCB2_JUP


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 PLCB2_JUP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneJUPP14923DB01593ZincJunction plakoglobinsmall moleculeapproved|investigational

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RelatedDiseases for PLCB2_JUP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneJUPC0023895Liver diseases1CTD_human
TgeneJUPC0033578Prostatic Neoplasms1CTD_human
TgeneJUPC0232347No-Reflow Phenomenon1CTD_human
TgeneJUPC1969081Arrhythmogenic Right Ventricular Dysplasia, Familial, 121CTD_human;UNIPROT