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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: 27496

FusionGeneSummary for PLCB4_BMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: PLCB4_BMP2
Fusion gene ID: 27496
HgeneTgene
Gene symbol

PLCB4

BMP2

Gene ID

5332

650

Gene namephospholipase C beta 4bone morphogenetic protein 2
SynonymsARCND2|PI-PLCBDA2|BMP2A|SSFSC
Cytomap

20p12.3-p12.2

20p12.3

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-41-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-beta-4dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))inositoltrisphosphohydrolasebone morphogenetic protein 2bone morphogenetic protein 2A
Modification date2018051920180527
UniProtAcc

Q15147

P12643

Ensembl transtripts involved in fusion geneENST00000334005, ENST00000378473, 
ENST00000278655, ENST00000414679, 
ENST00000492632, ENST00000378501, 
ENST00000378493, 
ENST00000378827, 
Fusion gene scores* DoF score6 X 6 X 5=1802 X 2 X 2=8
# samples 62
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PLCB4 [Title/Abstract] AND BMP2 [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
TgeneBMP2

GO:0000122

negative regulation of transcription by RNA polymerase II

9187146|19736317

TgeneBMP2

GO:0000187

activation of MAPK activity

17202865|22540193

TgeneBMP2

GO:0001649

osteoblast differentiation

15150273|22705305

TgeneBMP2

GO:0001837

epithelial to mesenchymal transition

15110716|18184661

TgeneBMP2

GO:0001934

positive regulation of protein phosphorylation

8653785|17472960

TgeneBMP2

GO:0001938

positive regulation of endothelial cell proliferation

17992660

TgeneBMP2

GO:0002062

chondrocyte differentiation

16194878

TgeneBMP2

GO:0003130

BMP signaling pathway involved in heart induction

19736317

TgeneBMP2

GO:0003308

negative regulation of Wnt signaling pathway involved in heart development

18545679

TgeneBMP2

GO:0006355

regulation of transcription, DNA-templated

15671031

TgeneBMP2

GO:0006468

protein phosphorylation

22540193

TgeneBMP2

GO:0008285

negative regulation of cell proliferation

9187146|19584291

TgeneBMP2

GO:0010628

positive regulation of gene expression

16243309|28124060

TgeneBMP2

GO:0010629

negative regulation of gene expression

28124060

TgeneBMP2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20890042

TgeneBMP2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

16049014|17244894

TgeneBMP2

GO:0010894

negative regulation of steroid biosynthetic process

19584291

TgeneBMP2

GO:0010922

positive regulation of phosphatase activity

9213002

TgeneBMP2

GO:0021537

telencephalon development

9187146

TgeneBMP2

GO:0030501

positive regulation of bone mineralization

18436533|20576608

TgeneBMP2

GO:0030509

BMP signaling pathway

16049014|18436533|20843790

TgeneBMP2

GO:0032092

positive regulation of protein binding

16604073

TgeneBMP2

GO:0032348

negative regulation of aldosterone biosynthetic process

19584291

TgeneBMP2

GO:0035051

cardiocyte differentiation

15110716

TgeneBMP2

GO:0035630

bone mineralization involved in bone maturation

16433617

TgeneBMP2

GO:0043065

positive regulation of apoptotic process

9187146

TgeneBMP2

GO:0043410

positive regulation of MAPK cascade

22540193

TgeneBMP2

GO:0043569

negative regulation of insulin-like growth factor receptor signaling pathway

19584291

TgeneBMP2

GO:0045669

positive regulation of osteoblast differentiation

15254224|16433617|18436533|20576608

TgeneBMP2

GO:0045778

positive regulation of ossification

9213002

TgeneBMP2

GO:0045786

negative regulation of cell cycle

11502704

TgeneBMP2

GO:0045892

negative regulation of transcription, DNA-templated

15254224

TgeneBMP2

GO:0045893

positive regulation of transcription, DNA-templated

16049014|16243309

TgeneBMP2

GO:0045944

positive regulation of transcription by RNA polymerase II

9187146|16433617|16604073|19736317|20890042

TgeneBMP2

GO:0048762

mesenchymal cell differentiation

9693150

TgeneBMP2

GO:0051042

negative regulation of calcium-independent cell-cell adhesion

16194878

TgeneBMP2

GO:0060317

cardiac epithelial to mesenchymal transition

18184661

TgeneBMP2

GO:0060389

pathway-restricted SMAD protein phosphorylation

16049014|18184661

TgeneBMP2

GO:0060395

SMAD protein signal transduction

17244894

TgeneBMP2

GO:0061036

positive regulation of cartilage development

3201241

TgeneBMP2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22540193

TgeneBMP2

GO:0071773

cellular response to BMP stimulus

20843790

TgeneBMP2

GO:1900745

positive regulation of p38MAPK cascade

22540193

TgeneBMP2

GO:1901522

positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

20843790

TgeneBMP2

GO:2000065

negative regulation of cortisol biosynthetic process

19584291

TgeneBMP2

GO:2000726

negative regulation of cardiac muscle cell differentiation

18545679


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
TCGARVBRCATCGA-BH-A1FH-01APLCB4chr20

9049550

+BMP2chr20

6750767

+
* 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-5UTRENST00000334005ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000378473ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000278655ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000414679ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000492632ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000378501ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+
intron-5UTRENST00000378493ENST00000378827PLCB4chr20

9049550

+BMP2chr20

6750767

+

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FusionProtFeatures for PLCB4_BMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLCB4

Q15147

BMP2

P12643

Induces cartilage and bone formation (PubMed:3201241).Stimulates the differentiation of myoblasts into osteoblasts viathe EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3stimulates phosphorylation of EIF2A which leads to increasedexpression of ATF4 which plays a central role in osteoblastdifferentiation. In addition stimulates TMEM119, which upregulatesthe expression of ATF4 (PubMed:24362451).{ECO:0000269|PubMed:24362451, ECO:0000269|PubMed:3201241}.

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 PLCB4_BMP2


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 PLCB4_BMP2


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
PLCB4REL, NLGN3BMP2BMPR1A, BMPR2, SOSTDC1, COL2A1, ENG, ACTR2, MGP, BMPR1B, TGFB2


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 PLCB4_BMP2


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

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RelatedDiseases for PLCB4_BMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLCB4C0025202melanoma1CTD_human
HgenePLCB4C0220633Uveal melanoma1CTD_human
HgenePLCB4C3553404AURICULOCONDYLAR SYNDROME 21UNIPROT
TgeneBMP2C0005940Bone Diseases1CTD_human
TgeneBMP2C0010278Craniosynostosis1CTD_human
TgeneBMP2C0027092Myopia1CTD_human
TgeneBMP2C0038356Stomach Neoplasms1CTD_human
TgeneBMP2C0041948Uremia1CTD_human
TgeneBMP2C1458155Mammary Neoplasms1CTD_human
TgeneBMP2C1704436Peripheral Arterial Diseases1CTD_human