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Fusion gene ID: 10621 |
FusionGeneSummary for DST_BMP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DST_BMP5 | Fusion gene ID: 10621 | Hgene | Tgene | Gene symbol | DST | BMP5 | Gene ID | 667 | 653 |
| Gene name | dystonin | bone morphogenetic protein 5 | |
| Synonyms | BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2 | - | |
| Cytomap | 6p12.1 | 6p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-beta | bone morphogenetic protein 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q03001 | P22003 | |
| Ensembl transtripts involved in fusion gene | ENST00000421834, ENST00000370769, ENST00000312431, ENST00000370754, ENST00000370788, ENST00000361203, ENST00000244364, ENST00000446842, ENST00000340834, ENST00000370765, ENST00000518935, | ENST00000370830, ENST00000446683, | |
| Fusion gene scores | * DoF score | 15 X 16 X 9=2160 | 3 X 2 X 3=18 |
| # samples | 17 | 3 | |
| ** MAII score | log2(17/2160*10)=-3.66742466091313 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: DST [Title/Abstract] AND BMP5 [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 | DST | GO:0009611 | response to wounding | 19403692 |
| Tgene | BMP5 | GO:0003323 | type B pancreatic cell development | 11865031 |
| Tgene | BMP5 | GO:0008284 | positive regulation of cell proliferation | 15516325 |
| Tgene | BMP5 | GO:0008285 | negative regulation of cell proliferation | 19584291 |
| Tgene | BMP5 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 11580864 |
| Tgene | BMP5 | GO:0010894 | negative regulation of steroid biosynthetic process | 19584291 |
| Tgene | BMP5 | GO:0032348 | negative regulation of aldosterone biosynthetic process | 19584291 |
| Tgene | BMP5 | GO:0043569 | negative regulation of insulin-like growth factor receptor signaling pathway | 19584291 |
| Tgene | BMP5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15516325 |
| Tgene | BMP5 | GO:0050679 | positive regulation of epithelial cell proliferation | 11865031 |
| Tgene | BMP5 | GO:1900006 | positive regulation of dendrite development | 11580864 |
| Tgene | BMP5 | GO:2000065 | negative regulation of cortisol biosynthetic process | 19584291 |
| 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 |
| TCGA | LD | LUSC | TCGA-56-8082-01A | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| * 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 |
| Frame-shift | ENST00000421834 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000421834 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370769 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370769 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| 3UTR-3CDS | ENST00000312431 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| 3UTR-3CDS | ENST00000312431 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370754 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370754 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370788 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000370788 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000361203 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000361203 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000244364 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000244364 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000446842 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| Frame-shift | ENST00000446842 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| 5UTR-3CDS | ENST00000340834 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| 5UTR-3CDS | ENST00000340834 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| intron-3CDS | ENST00000370765 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| intron-3CDS | ENST00000370765 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| intron-3CDS | ENST00000518935 | ENST00000370830 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
| intron-3CDS | ENST00000518935 | ENST00000446683 | DST | chr6 | 56391159 | - | BMP5 | chr6 | 55659225 | - |
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FusionProtFeatures for DST_BMP5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DST | BMP5 |