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Fusion gene ID: 22125 |
FusionGeneSummary for MKX_TGFB3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MKX_TGFB3 | Fusion gene ID: 22125 | Hgene | Tgene | Gene symbol | MKX | TGFB3 | Gene ID | 283078 | 7043 |
| Gene name | mohawk homeobox | transforming growth factor beta 3 | |
| Synonyms | C10orf48|IFRX|IRXL1 | ARVD|ARVD1|LDS5|RNHF|TGF-beta3 | |
| Cytomap | 10p12.1 | 14q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | homeobox protein MohawkIroquois family related homeodomain proteiniroquois homeobox protein-like 1 | transforming growth factor beta-3prepro-transforming growth factor beta-3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8IYA7 | P10600 | |
| Ensembl transtripts involved in fusion gene | ENST00000419761, ENST00000375790, | ENST00000238682, ENST00000556285, ENST00000556674, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: MKX [Title/Abstract] AND TGFB3 [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 |
| Tgene | TGFB3 | GO:0001666 | response to hypoxia | 18156205 |
| Tgene | TGFB3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 11157754|18718461 |
| Tgene | TGFB3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 18505915|18718461 |
| Tgene | TGFB3 | GO:0010936 | negative regulation of macrophage cytokine production | 20875417 |
| Tgene | TGFB3 | GO:0032570 | response to progesterone | 18039789 |
| Tgene | TGFB3 | GO:0045216 | cell-cell junction organization | 18505915 |
| Tgene | TGFB3 | GO:0045893 | positive regulation of transcription, DNA-templated | 18156205 |
| Tgene | TGFB3 | GO:0050714 | positive regulation of protein secretion | 18505915 |
| Tgene | TGFB3 | GO:0051496 | positive regulation of stress fiber assembly | 18718461 |
| Tgene | TGFB3 | GO:0070483 | detection of hypoxia | 18156205 |
| Tgene | TGFB3 | GO:1904706 | negative regulation of vascular smooth muscle cell proliferation | 26315405 |
| Tgene | TGFB3 | GO:1905075 | positive regulation of occluding junction disassembly | 18718461 |
| 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 | BE835454 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| * 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 | ENST00000419761 | ENST00000238682 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| intron-intron | ENST00000419761 | ENST00000556285 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| intron-intron | ENST00000419761 | ENST00000556674 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| intron-3UTR | ENST00000375790 | ENST00000238682 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| intron-intron | ENST00000375790 | ENST00000556285 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
| intron-intron | ENST00000375790 | ENST00000556674 | MKX | chr10 | 27993949 | - | TGFB3 | chr14 | 76424741 | - |
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FusionProtFeatures for MKX_TGFB3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MKX | TGFB3 |