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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:BMPR2-EPC1 (FusionGDB2 ID:9928) |
Fusion Gene Summary for BMPR2-EPC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BMPR2-EPC1 | Fusion gene ID: 9928 | Hgene | Tgene | Gene symbol | BMPR2 | EPC1 | Gene ID | 659 | 80314 |
| Gene name | bone morphogenetic protein receptor type 2 | enhancer of polycomb homolog 1 | |
| Synonyms | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | Epl1 | |
| Cytomap | 2q33.1-q33.2 | 10p11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bone morphogenetic protein receptor type-2BMP type II receptorBMP type-2 receptorbone morphogenetic protein receptor type IIbone morphogenetic protein receptor, type II (serine/threonine kinase)type II activin receptor-like kinasetype II receptor fo | enhancer of polycomb homolog 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q13873 | Q9H2F5 | |
| Ensembl transtripts involved in fusion gene | ENST00000374574, ENST00000374580, ENST00000479069, | ENST00000263062, ENST00000319778, ENST00000375110, ENST00000480402, | |
| Fusion gene scores | * DoF score | 20 X 12 X 9=2160 | 9 X 10 X 3=270 |
| # samples | 21 | 10 | |
| ** MAII score | log2(21/2160*10)=-3.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/270*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BMPR2 [Title/Abstract] AND EPC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BMPR2(203427718)-EPC1(32598519), # samples:1 EPC1(32598519)-BMPR2(203427718), # 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) |
| 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 | BMPR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 12045205 |
| Hgene | BMPR2 | GO:0010634 | positive regulation of epithelial cell migration | 12819188 |
| Hgene | BMPR2 | GO:0030308 | negative regulation of cell growth | 12819188 |
| Hgene | BMPR2 | GO:0030509 | BMP signaling pathway | 18436533 |
| Tgene | EPC1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10976108 |
| Tgene | EPC1 | GO:0043967 | histone H4 acetylation | 14966270 |
| Tgene | EPC1 | GO:0043968 | histone H2A acetylation | 14966270 |
| Tgene | EPC1 | GO:0045814 | negative regulation of gene expression, epigenetic | 10976108 |
| Tgene | EPC1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10976108 |
| Tgene | EPC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10976108 |
| Fusion gene breakpoints across BMPR2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across EPC1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | CB052857 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
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Fusion Gene ORF analysis for BMPR2-EPC1 |
| 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 |
| 3UTR-intron | ENST00000374574 | ENST00000263062 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374574 | ENST00000319778 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374574 | ENST00000375110 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374574 | ENST00000480402 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374580 | ENST00000263062 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374580 | ENST00000319778 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374580 | ENST00000375110 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| 3UTR-intron | ENST00000374580 | ENST00000480402 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| intron-intron | ENST00000479069 | ENST00000263062 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| intron-intron | ENST00000479069 | ENST00000319778 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| intron-intron | ENST00000479069 | ENST00000375110 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| intron-intron | ENST00000479069 | ENST00000480402 | BMPR2 | chr2 | 203427718 | + | EPC1 | chr10 | 32598519 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BMPR2-EPC1 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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 BMPR2-EPC1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:203427718/:32598519) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMPR2 | EPC1 |
| FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. {ECO:0000250|UniProtKB:O35607}. | FUNCTION: Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. {ECO:0000269|PubMed:14966270}. |
| 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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Fusion Gene Sequence for BMPR2-EPC1 |
| 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 BMPR2-EPC1 |
| 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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Related Drugs for BMPR2-EPC1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BMPR2-EPC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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