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Fusion gene ID: 23183 |
FusionGeneSummary for MYO6_IBTK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYO6_IBTK | Fusion gene ID: 23183 | Hgene | Tgene | Gene symbol | MYO6 | IBTK | Gene ID | 4646 | 25998 |
| Gene name | myosin VI | inhibitor of Bruton tyrosine kinase | |
| Synonyms | DFNA22|DFNB37|Myo6-007|Myo6-008 | BTBD26|BTKI | |
| Cytomap | 6q14.1 | 6q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | unconventional myosin-VImyosin VI transcript variant 007myosin VI transcript variant 008unconventional myosin-6 | inhibitor of Bruton tyrosine kinaseBTK-binding proteinBruton agammaglobulinemia tyrosine kinase inhibitorinhibitor of Bruton's tyrosine kinase-alphainhibitor of Bruton's tyrosine kinase-betainhibitor of Bruton's tyrosine kinase-gamma | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q9UM54 | Q9P2D0 | |
| Ensembl transtripts involved in fusion gene | ENST00000369981, ENST00000369985, ENST00000369977, ENST00000369975, ENST00000462633, | ENST00000306270, ENST00000503631, ENST00000510291, | |
| Fusion gene scores | * DoF score | 9 X 8 X 8=576 | 2 X 3 X 2=12 |
| # samples | 17 | 3 | |
| ** MAII score | log2(17/576*10)=-1.76053406530461 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MYO6 [Title/Abstract] AND IBTK [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 | MYO6 | GO:0030330 | DNA damage response, signal transduction by p53 class mediator | 16507995 |
| Tgene | IBTK | GO:0001933 | negative regulation of protein phosphorylation | 11577348 |
| Tgene | IBTK | GO:0051209 | release of sequestered calcium ion into cytosol | 11577348 |
| 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 | BRCA | TCGA-BH-A0C0-01A | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| * 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 |
| 3UTR-3CDS | ENST00000369981 | ENST00000306270 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369981 | ENST00000503631 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369981 | ENST00000510291 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369985 | ENST00000306270 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369985 | ENST00000503631 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369985 | ENST00000510291 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369977 | ENST00000306270 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369977 | ENST00000503631 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369977 | ENST00000510291 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369975 | ENST00000306270 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369975 | ENST00000503631 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| 3UTR-3CDS | ENST00000369975 | ENST00000510291 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| intron-3CDS | ENST00000462633 | ENST00000306270 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| intron-3CDS | ENST00000462633 | ENST00000503631 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
| intron-3CDS | ENST00000462633 | ENST00000510291 | MYO6 | chr6 | 76624777 | + | IBTK | chr6 | 82935364 | - |
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FusionProtFeatures for MYO6_IBTK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYO6 | IBTK |