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Fusion gene ID: 11775 |
FusionGeneSummary for EPC1_BMPR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPC1_BMPR2 | Fusion gene ID: 11775 | Hgene | Tgene | Gene symbol | EPC1 | BMPR2 | Gene ID | 80314 | 659 |
| Gene name | enhancer of polycomb homolog 1 | bone morphogenetic protein receptor type 2 | |
| Synonyms | Epl1 | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | |
| Cytomap | 10p11.22 | 2q33.1-q33.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | enhancer of polycomb homolog 1 | 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 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9H2F5 | Q13873 | |
| Ensembl transtripts involved in fusion gene | ENST00000375110, ENST00000319778, ENST00000263062, ENST00000480402, | ENST00000374580, ENST00000374574, ENST00000479069, | |
| Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 6 X 6 X 2=72 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPC1 [Title/Abstract] AND BMPR2 [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 | EPC1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10976108 |
| Hgene | EPC1 | GO:0043967 | histone H4 acetylation | 14966270 |
| Hgene | EPC1 | GO:0043968 | histone H2A acetylation | 14966270 |
| Hgene | EPC1 | GO:0045814 | negative regulation of gene expression, epigenetic | 10976108 |
| Hgene | EPC1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10976108 |
| Hgene | EPC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10976108 |
| Tgene | BMPR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 12045205 |
| Tgene | BMPR2 | GO:0010634 | positive regulation of epithelial cell migration | 12819188 |
| Tgene | BMPR2 | GO:0030308 | negative regulation of cell growth | 12819188 |
| Tgene | BMPR2 | GO:0030509 | BMP signaling pathway | 18436533 |
| 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 | CB052856 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| * 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 |
| intron-3UTR | ENST00000375110 | ENST00000374580 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000375110 | ENST00000374574 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-intron | ENST00000375110 | ENST00000479069 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000319778 | ENST00000374580 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000319778 | ENST00000374574 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-intron | ENST00000319778 | ENST00000479069 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000263062 | ENST00000374580 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000263062 | ENST00000374574 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-intron | ENST00000263062 | ENST00000479069 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000480402 | ENST00000374580 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-3UTR | ENST00000480402 | ENST00000374574 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
| intron-intron | ENST00000480402 | ENST00000479069 | EPC1 | chr10 | 32598519 | + | BMPR2 | chr2 | 203427718 | - |
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FusionProtFeatures for EPC1_BMPR2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPC1 | BMPR2 |
| On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Binds to BMP7, BMP2 and, lessefficiently, BMP4. Binding is weak but enhanced by the presence oftype I receptors for BMPs. Mediates induction of adipogenesis byGDF6. {ECO:0000250|UniProtKB:O35607}. |
| 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 EPC1_BMPR2 |
| 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 EPC1_BMPR2 |
| 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 EPC1_BMPR2 |
| 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 |
| Tgene | BMPR2 | Q13873 | DB11639 | Dibotermin alfa | Bone morphogenetic protein receptor type-2 | biotech | approved|investigational |
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RelatedDiseases for EPC1_BMPR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BMPR2 | C0020542 | Pulmonary Hypertension | 9 | CTD_human;HPO |
| Tgene | BMPR2 | C3203102 | Idiopathic pulmonary arterial hypertension | 7 | HPO;UNIPROT |
| Tgene | BMPR2 | C0206081 | Hyperandrogenism | 1 | CTD_human |
| Tgene | BMPR2 | C0340543 | Familial primary pulmonary hypertension | 1 | CTD_human;ORPHANET |
| Tgene | BMPR2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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