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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:BMP2-BMP2 (FusionGDB2 ID:HG650TG650)

Fusion Gene Summary for BMP2-BMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: BMP2-BMP2
Fusion gene ID: hg650tg650
HgeneTgene
Gene symbol

BMP2

BMP2

Gene ID

650

650

Gene namebone morphogenetic protein 2bone morphogenetic protein 2
SynonymsBDA2|BMP2A|SSFSCBDA2|BMP2A|SSFSC
Cytomap('BMP2')('BMP2')

20p12.3

20p12.3

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein 2bone morphogenetic protein 2Abone morphogenetic protein 2bone morphogenetic protein 2A
Modification date2020031520200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378827, ENST00000378827, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 3 X 2=18
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BMP2 [Title/Abstract] AND BMP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBMP2(6759677)-BMP2(6759533), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneBMP2

GO:0000122

negative regulation of transcription by RNA polymerase II

9187146|19736317

HgeneBMP2

GO:0000187

activation of MAPK activity

17202865|22540193

HgeneBMP2

GO:0001649

osteoblast differentiation

15150273|22705305

HgeneBMP2

GO:0001837

epithelial to mesenchymal transition

15110716|18184661

HgeneBMP2

GO:0001934

positive regulation of protein phosphorylation

8653785|17472960

HgeneBMP2

GO:0001938

positive regulation of endothelial cell proliferation

17992660

HgeneBMP2

GO:0002062

chondrocyte differentiation

16194878

HgeneBMP2

GO:0003130

BMP signaling pathway involved in heart induction

19736317

HgeneBMP2

GO:0003308

negative regulation of Wnt signaling pathway involved in heart development

18545679

HgeneBMP2

GO:0006355

regulation of transcription, DNA-templated

15671031

HgeneBMP2

GO:0006468

protein phosphorylation

22540193

HgeneBMP2

GO:0008285

negative regulation of cell proliferation

9187146|19584291

HgeneBMP2

GO:0010628

positive regulation of gene expression

16243309|22579779|28124060

HgeneBMP2

GO:0010629

negative regulation of gene expression

28124060

HgeneBMP2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20890042

HgeneBMP2

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

16049014|17244894

HgeneBMP2

GO:0010894

negative regulation of steroid biosynthetic process

19584291

HgeneBMP2

GO:0010922

positive regulation of phosphatase activity

9213002

HgeneBMP2

GO:0021537

telencephalon development

9187146

HgeneBMP2

GO:0030501

positive regulation of bone mineralization

18436533|20576608

HgeneBMP2

GO:0030509

BMP signaling pathway

16049014|18436533|20843790

HgeneBMP2

GO:0032092

positive regulation of protein binding

16604073

HgeneBMP2

GO:0032348

negative regulation of aldosterone biosynthetic process

19584291

HgeneBMP2

GO:0035051

cardiocyte differentiation

15110716

HgeneBMP2

GO:0035630

bone mineralization involved in bone maturation

16433617

HgeneBMP2

GO:0043065

positive regulation of apoptotic process

9187146

HgeneBMP2

GO:0043410

positive regulation of MAPK cascade

22540193

HgeneBMP2

GO:0043569

negative regulation of insulin-like growth factor receptor signaling pathway

19584291

HgeneBMP2

GO:0045669

positive regulation of osteoblast differentiation

15254224|16433617|18436533|20576608

HgeneBMP2

GO:0045778

positive regulation of ossification

9213002

HgeneBMP2

GO:0045786

negative regulation of cell cycle

11502704

HgeneBMP2

GO:0045892

negative regulation of transcription, DNA-templated

15254224

HgeneBMP2

GO:0045893

positive regulation of transcription, DNA-templated

16049014|16243309

HgeneBMP2

GO:0045944

positive regulation of transcription by RNA polymerase II

9187146|16433617|16604073|19736317|20890042

HgeneBMP2

GO:0048762

mesenchymal cell differentiation

9693150

HgeneBMP2

GO:0051042

negative regulation of calcium-independent cell-cell adhesion

16194878

HgeneBMP2

GO:0060317

cardiac epithelial to mesenchymal transition

18184661

HgeneBMP2

GO:0060389

pathway-restricted SMAD protein phosphorylation

16049014|18184661

HgeneBMP2

GO:0060395

SMAD protein signal transduction

17244894

HgeneBMP2

GO:0061036

positive regulation of cartilage development

3201241

HgeneBMP2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22540193

HgeneBMP2

GO:0071773

cellular response to BMP stimulus

20843790

HgeneBMP2

GO:1900745

positive regulation of p38MAPK cascade

22540193

HgeneBMP2

GO:1901522

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

20843790

HgeneBMP2

GO:2000065

negative regulation of cortisol biosynthetic process

19584291

HgeneBMP2

GO:2000726

negative regulation of cardiac muscle cell differentiation

18545679

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|22579779|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 buttonFusion gene breakpoints across BMP2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across BMP2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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


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Fusion Gene ORF analysis for BMP2-BMP2

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

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 BMP2-BMP2


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.
genomic feature

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Fusion Protein Features for BMP2-BMP2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:6759677/chr20:6759533)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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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Fusion Gene Sequence for BMP2-BMP2


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 BMP2-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


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 BMP2-BMP2


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 BMP2-BMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMP2C1832702BRACHYDACTYLY, TYPE A24CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneBMP2C4693481SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES3GENOMICS_ENGLAND
HgeneBMP2C430453920p12.3 microdeletion syndrome2ORPHANET
HgeneBMP2C0005940Bone Diseases1CTD_human
HgeneBMP2C0006142Malignant neoplasm of breast1CTD_human
HgeneBMP2C0008925Cleft Palate1GENOMICS_ENGLAND
HgeneBMP2C0009402Colorectal Carcinoma1CTD_human
HgeneBMP2C0009404Colorectal Neoplasms1CTD_human
HgeneBMP2C0010278Craniosynostosis1CTD_human
HgeneBMP2C0024623Malignant neoplasm of stomach1CTD_human
HgeneBMP2C0027092Myopia1CTD_human
HgeneBMP2C0030044Acrocephaly1CTD_human
HgeneBMP2C0033054Prenatal Exposure Delayed Effects1CTD_human
HgeneBMP2C0038356Stomach Neoplasms1CTD_human
HgeneBMP2C0041948Uremia1CTD_human
HgeneBMP2C0221356Brachycephaly1CTD_human
HgeneBMP2C0265534Scaphycephaly1CTD_human
HgeneBMP2C0265535Trigonocephaly1CTD_human
HgeneBMP2C0678222Breast Carcinoma1CTD_human
HgeneBMP2C0876994Cardiotoxicity1CTD_human
HgeneBMP2C1257931Mammary Neoplasms, Human1CTD_human
HgeneBMP2C1458155Mammary Neoplasms1CTD_human
HgeneBMP2C1704436Peripheral Arterial Diseases1CTD_human
HgeneBMP2C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneBMP2C1833340Synostotic Posterior Plagiocephaly1CTD_human
HgeneBMP2C1848587Isolated hypoplasia of the right ventricle1CTD_human
HgeneBMP2C1860819Metopic synostosis1CTD_human
HgeneBMP2C2931150Synostotic Anterior Plagiocephaly1CTD_human
HgeneBMP2C3469186HEMOCHROMATOSIS, TYPE 11GENOMICS_ENGLAND
HgeneBMP2C4551902Craniosynostosis, Type 11CTD_human
HgeneBMP2C4704874Mammary Carcinoma, Human1CTD_human
TgeneC1832702BRACHYDACTYLY, TYPE A24CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC4693481SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES3GENOMICS_ENGLAND
TgeneC430453920p12.3 microdeletion syndrome2ORPHANET
TgeneC0005940Bone Diseases1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0008925Cleft Palate1GENOMICS_ENGLAND
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0010278Craniosynostosis1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027092Myopia1CTD_human
TgeneC0030044Acrocephaly1CTD_human
TgeneC0033054Prenatal Exposure Delayed Effects1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0041948Uremia1CTD_human
TgeneC0221356Brachycephaly1CTD_human
TgeneC0265534Scaphycephaly1CTD_human
TgeneC0265535Trigonocephaly1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0876994Cardiotoxicity1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1704436Peripheral Arterial Diseases1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1833340Synostotic Posterior Plagiocephaly1CTD_human
TgeneC1848587Isolated hypoplasia of the right ventricle1CTD_human
TgeneC1860819Metopic synostosis1CTD_human
TgeneC2931150Synostotic Anterior Plagiocephaly1CTD_human
TgeneC3469186HEMOCHROMATOSIS, TYPE 11GENOMICS_ENGLAND
TgeneC4551902Craniosynostosis, Type 11CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human