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Fusion gene ID: 22060 |
FusionGeneSummary for MITF_PSMD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MITF_PSMD6 | Fusion gene ID: 22060 | Hgene | Tgene | Gene symbol | MITF | PSMD6 | Gene ID | 4286 | 9861 |
| Gene name | melanogenesis associated transcription factor | proteasome 26S subunit, non-ATPase 6 | |
| Synonyms | CMM8|COMMAD|MI|WS2|WS2A|bHLHe32 | Rpn7|S10|SGA-113M|p42A|p44S10 | |
| Cytomap | 3p13 | 3p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | microphthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factor | 26S proteasome non-ATPase regulatory subunit 6breast cancer-associated protein SGA-113Mphosphonoformate immuno-associated protein 4proteasome (prosome, macropain) 26S subunit, non-ATPase, 6proteasome regulatory particle subunit p44S10 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | O75030 | Q15008 | |
| Ensembl transtripts involved in fusion gene | ENST00000352241, ENST00000448226, ENST00000472437, ENST00000328528, ENST00000314589, ENST00000394355, ENST00000314557, ENST00000394351, ENST00000531774, ENST00000394348, | ENST00000295901, ENST00000492933, ENST00000394431, ENST00000482510, | |
| Fusion gene scores | * DoF score | 7 X 3 X 3=63 | 3 X 3 X 3=27 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/63*10)=-0.333423733725192 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MITF [Title/Abstract] AND PSMD6 [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 | MITF | GO:0010628 | positive regulation of gene expression | 22234890 |
| Hgene | MITF | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 |
| Hgene | MITF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20530484|21209915 |
| Hgene | MITF | GO:0065003 | protein-containing complex assembly | 20530484 |
| Hgene | MITF | GO:2000144 | positive regulation of DNA-templated transcription, initiation | 8995290|12204775 |
| Hgene | MITF | GO:2001141 | regulation of RNA biosynthetic process | 16411896 |
| 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 | SKCM | TCGA-D3-A2JG-06A | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| * 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 | ENST00000352241 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000352241 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| Frame-shift | ENST00000448226 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000472437 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000328528 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314589 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394355 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000314557 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394351 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000531774 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000295901 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000492933 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000394431 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
| intron-3CDS | ENST00000394348 | ENST00000482510 | MITF | chr3 | 69788852 | + | PSMD6 | chr3 | 64008199 | - |
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FusionProtFeatures for MITF_PSMD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MITF | PSMD6 |