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Fusion gene ID: 20706 |
FusionGeneSummary for MAML2_MYO5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAML2_MYO5A | Fusion gene ID: 20706 | Hgene | Tgene | Gene symbol | MAML2 | MYO5A | Gene ID | 84441 | 4644 |
| Gene name | mastermind like transcriptional coactivator 2 | myosin VA | |
| Synonyms | MAM-3|MAM2|MAM3|MLL-MAML2 | GS1|MYH12|MYO5|MYR12 | |
| Cytomap | 11q21 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like protein 2mam-2mastermind-like 2 | unconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IZL2 | Q9Y4I1 | |
| Ensembl transtripts involved in fusion gene | ENST00000524717, | ENST00000399231, ENST00000356338, ENST00000358212, ENST00000399233, ENST00000553916, | |
| Fusion gene scores | * DoF score | 11 X 8 X 5=440 | 10 X 11 X 7=770 |
| # samples | 12 | 10 | |
| ** MAII score | log2(12/440*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/770*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAML2 [Title/Abstract] AND MYO5A [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 | MAML2 | GO:0007219 | Notch signaling pathway | 12370315 |
| Hgene | MAML2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
| 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 | AW895156 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| * 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 | ENST00000524717 | ENST00000399231 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000356338 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000358212 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000399233 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-intron | ENST00000524717 | ENST00000553916 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
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FusionProtFeatures for MAML2_MYO5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAML2 | MYO5A |