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Fusion gene ID: 4233 |
FusionGeneSummary for BMP2_BMP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BMP2_BMP2 | Fusion gene ID: 4233 | Hgene | Tgene | Gene symbol | BMP2 | BMP2 | Gene ID | 650 | 650 |
| Gene name | bone morphogenetic protein 2 | bone morphogenetic protein 2 | |
| Synonyms | BDA2|BMP2A|SSFSC | BDA2|BMP2A|SSFSC | |
| Cytomap | 20p12.3 | 20p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bone morphogenetic protein 2bone morphogenetic protein 2A | bone morphogenetic protein 2bone morphogenetic protein 2A | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P12643 | P12643 | |
| Ensembl transtripts involved in fusion gene | ENST00000378827, | ENST00000378827, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: BMP2 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | BMP2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9187146|19736317 |
| Hgene | BMP2 | GO:0000187 | activation of MAPK activity | 17202865|22540193 |
| Hgene | BMP2 | GO:0001649 | osteoblast differentiation | 15150273|22705305 |
| Hgene | BMP2 | GO:0001837 | epithelial to mesenchymal transition | 15110716|18184661 |
| Hgene | BMP2 | GO:0001934 | positive regulation of protein phosphorylation | 8653785|17472960 |
| Hgene | BMP2 | GO:0001938 | positive regulation of endothelial cell proliferation | 17992660 |
| Hgene | BMP2 | GO:0002062 | chondrocyte differentiation | 16194878 |
| Hgene | BMP2 | GO:0003130 | BMP signaling pathway involved in heart induction | 19736317 |
| Hgene | BMP2 | GO:0003308 | negative regulation of Wnt signaling pathway involved in heart development | 18545679 |
| Hgene | BMP2 | GO:0006355 | regulation of transcription, DNA-templated | 15671031 |
| Hgene | BMP2 | GO:0006468 | protein phosphorylation | 22540193 |
| Hgene | BMP2 | GO:0008285 | negative regulation of cell proliferation | 9187146|19584291 |
| Hgene | BMP2 | GO:0010628 | positive regulation of gene expression | 16243309|28124060 |
| Hgene | BMP2 | GO:0010629 | negative regulation of gene expression | 28124060 |
| Hgene | BMP2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20890042 |
| Hgene | BMP2 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 16049014|17244894 |
| Hgene | BMP2 | GO:0010894 | negative regulation of steroid biosynthetic process | 19584291 |
| Hgene | BMP2 | GO:0010922 | positive regulation of phosphatase activity | 9213002 |
| Hgene | BMP2 | GO:0021537 | telencephalon development | 9187146 |
| Hgene | BMP2 | GO:0030501 | positive regulation of bone mineralization | 18436533|20576608 |
| Hgene | BMP2 | GO:0030509 | BMP signaling pathway | 16049014|18436533|20843790 |
| Hgene | BMP2 | GO:0032092 | positive regulation of protein binding | 16604073 |
| Hgene | BMP2 | GO:0032348 | negative regulation of aldosterone biosynthetic process | 19584291 |
| Hgene | BMP2 | GO:0035051 | cardiocyte differentiation | 15110716 |
| Hgene | BMP2 | GO:0035630 | bone mineralization involved in bone maturation | 16433617 |
| Hgene | BMP2 | GO:0043065 | positive regulation of apoptotic process | 9187146 |
| Hgene | BMP2 | GO:0043410 | positive regulation of MAPK cascade | 22540193 |
| Hgene | BMP2 | GO:0043569 | negative regulation of insulin-like growth factor receptor signaling pathway | 19584291 |
| Hgene | BMP2 | GO:0045669 | positive regulation of osteoblast differentiation | 15254224|16433617|18436533|20576608 |
| Hgene | BMP2 | GO:0045778 | positive regulation of ossification | 9213002 |
| Hgene | BMP2 | GO:0045786 | negative regulation of cell cycle | 11502704 |
| Hgene | BMP2 | GO:0045892 | negative regulation of transcription, DNA-templated | 15254224 |
| Hgene | BMP2 | GO:0045893 | positive regulation of transcription, DNA-templated | 16049014|16243309 |
| Hgene | BMP2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9187146|16433617|16604073|19736317|20890042 |
| Hgene | BMP2 | GO:0048762 | mesenchymal cell differentiation | 9693150 |
| Hgene | BMP2 | GO:0051042 | negative regulation of calcium-independent cell-cell adhesion | 16194878 |
| Hgene | BMP2 | GO:0060317 | cardiac epithelial to mesenchymal transition | 18184661 |
| Hgene | BMP2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 16049014|18184661 |
| Hgene | BMP2 | GO:0060395 | SMAD protein signal transduction | 17244894 |
| Hgene | BMP2 | GO:0061036 | positive regulation of cartilage development | 3201241 |
| Hgene | BMP2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22540193 |
| Hgene | BMP2 | GO:0071773 | cellular response to BMP stimulus | 20843790 |
| Hgene | BMP2 | GO:1900745 | positive regulation of p38MAPK cascade | 22540193 |
| Hgene | BMP2 | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 20843790 |
| Hgene | BMP2 | GO:2000065 | negative regulation of cortisol biosynthetic process | 19584291 |
| Hgene | BMP2 | GO:2000726 | negative regulation of cardiac muscle cell differentiation | 18545679 |
| Tgene | BMP2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9187146|19736317 |
| Tgene | BMP2 | GO:0000187 | activation of MAPK activity | 17202865|22540193 |
| Tgene | BMP2 | GO:0001649 | osteoblast differentiation | 15150273|22705305 |
| Tgene | BMP2 | GO:0001837 | epithelial to mesenchymal transition | 15110716|18184661 |
| Tgene | BMP2 | GO:0001934 | positive regulation of protein phosphorylation | 8653785|17472960 |
| Tgene | BMP2 | GO:0001938 | positive regulation of endothelial cell proliferation | 17992660 |
| Tgene | BMP2 | GO:0002062 | chondrocyte differentiation | 16194878 |
| Tgene | BMP2 | GO:0003130 | BMP signaling pathway involved in heart induction | 19736317 |
| Tgene | BMP2 | GO:0003308 | negative regulation of Wnt signaling pathway involved in heart development | 18545679 |
| Tgene | BMP2 | GO:0006355 | regulation of transcription, DNA-templated | 15671031 |
| Tgene | BMP2 | GO:0006468 | protein phosphorylation | 22540193 |
| Tgene | BMP2 | GO:0008285 | negative regulation of cell proliferation | 9187146|19584291 |
| Tgene | BMP2 | GO:0010628 | positive regulation of gene expression | 16243309|28124060 |
| Tgene | BMP2 | GO:0010629 | negative regulation of gene expression | 28124060 |
| Tgene | BMP2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20890042 |
| Tgene | BMP2 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 16049014|17244894 |
| Tgene | BMP2 | GO:0010894 | negative regulation of steroid biosynthetic process | 19584291 |
| Tgene | BMP2 | GO:0010922 | positive regulation of phosphatase activity | 9213002 |
| Tgene | BMP2 | GO:0021537 | telencephalon development | 9187146 |
| Tgene | BMP2 | GO:0030501 | positive regulation of bone mineralization | 18436533|20576608 |
| Tgene | BMP2 | GO:0030509 | BMP signaling pathway | 16049014|18436533|20843790 |
| Tgene | BMP2 | GO:0032092 | positive regulation of protein binding | 16604073 |
| Tgene | BMP2 | GO:0032348 | negative regulation of aldosterone biosynthetic process | 19584291 |
| Tgene | BMP2 | GO:0035051 | cardiocyte differentiation | 15110716 |
| Tgene | BMP2 | GO:0035630 | bone mineralization involved in bone maturation | 16433617 |
| Tgene | BMP2 | GO:0043065 | positive regulation of apoptotic process | 9187146 |
| Tgene | BMP2 | GO:0043410 | positive regulation of MAPK cascade | 22540193 |
| Tgene | BMP2 | GO:0043569 | negative regulation of insulin-like growth factor receptor signaling pathway | 19584291 |
| Tgene | BMP2 | GO:0045669 | positive regulation of osteoblast differentiation | 15254224|16433617|18436533|20576608 |
| Tgene | BMP2 | GO:0045778 | positive regulation of ossification | 9213002 |
| Tgene | BMP2 | GO:0045786 | negative regulation of cell cycle | 11502704 |
| Tgene | BMP2 | GO:0045892 | negative regulation of transcription, DNA-templated | 15254224 |
| Tgene | BMP2 | GO:0045893 | positive regulation of transcription, DNA-templated | 16049014|16243309 |
| Tgene | BMP2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9187146|16433617|16604073|19736317|20890042 |
| Tgene | BMP2 | GO:0048762 | mesenchymal cell differentiation | 9693150 |
| Tgene | BMP2 | GO:0051042 | negative regulation of calcium-independent cell-cell adhesion | 16194878 |
| Tgene | BMP2 | GO:0060317 | cardiac epithelial to mesenchymal transition | 18184661 |
| Tgene | BMP2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 16049014|18184661 |
| Tgene | BMP2 | GO:0060395 | SMAD protein signal transduction | 17244894 |
| Tgene | BMP2 | GO:0061036 | positive regulation of cartilage development | 3201241 |
| Tgene | BMP2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22540193 |
| Tgene | BMP2 | GO:0071773 | cellular response to BMP stimulus | 20843790 |
| Tgene | BMP2 | GO:1900745 | positive regulation of p38MAPK cascade | 22540193 |
| Tgene | BMP2 | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 20843790 |
| Tgene | BMP2 | GO:2000065 | negative regulation of cortisol biosynthetic process | 19584291 |
| Tgene | BMP2 | GO:2000726 | negative regulation of cardiac muscle cell differentiation | 18545679 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | CB306884 | BMP2 | chr20 | 6759677 | - | BMP2 | chr20 | 6759533 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000378827 | ENST00000378827 | BMP2 | chr20 | 6759677 | - | BMP2 | chr20 | 6759533 | + |
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FusionProtFeatures for BMP2_BMP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMP2 | BMP2 |
| 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}. | 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BMP2_BMP2 |
| 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 BMP2_BMP2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BMP2_BMP2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BMP2_BMP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BMP2 | C0005940 | Bone Diseases | 1 | CTD_human |
| Hgene | BMP2 | C0010278 | Craniosynostosis | 1 | CTD_human |
| Hgene | BMP2 | C0027092 | Myopia | 1 | CTD_human |
| Hgene | BMP2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | BMP2 | C0041948 | Uremia | 1 | CTD_human |
| Hgene | BMP2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | BMP2 | C1704436 | Peripheral Arterial Diseases | 1 | CTD_human |
| Tgene | BMP2 | C0005940 | Bone Diseases | 1 | CTD_human |
| Tgene | BMP2 | C0010278 | Craniosynostosis | 1 | CTD_human |
| Tgene | BMP2 | C0027092 | Myopia | 1 | CTD_human |
| Tgene | BMP2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | BMP2 | C0041948 | Uremia | 1 | CTD_human |
| Tgene | BMP2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | BMP2 | C1704436 | Peripheral Arterial Diseases | 1 | CTD_human |
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