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Fusion gene ID: 21270 |
FusionGeneSummary for MCC_PSMD6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MCC_PSMD6 | Fusion gene ID: 21270 | Hgene | Tgene | Gene symbol | MCC | PSMD6 | Gene ID | 4163 | 9861 |
| Gene name | MCC, WNT signaling pathway regulator | proteasome 26S subunit, non-ATPase 6 | |
| Synonyms | MCC1 | Rpn7|S10|SGA-113M|p42A|p44S10 | |
| Cytomap | 5q22.2 | 3p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | colorectal mutant cancer proteinmutated in colorectal cancers | 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 | 20180522 | 20180523 | |
| UniProtAcc | P23508 | Q15008 | |
| Ensembl transtripts involved in fusion gene | ENST00000302475, ENST00000514701, ENST00000515367, ENST00000408903, | ENST00000295901, ENST00000492933, ENST00000394431, ENST00000482510, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 3 X 3 X 3=27 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/60*10)=0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MCC [Title/Abstract] AND PSMD6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | MCC | GO:0045184 | establishment of protein localization | 18591935 |
| Hgene | MCC | GO:0050680 | negative regulation of epithelial cell proliferation | 18591935 |
| Hgene | MCC | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18591935 |
| 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 | RV | KIRC | TCGA-BP-4968-01A | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| * 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 | ENST00000302475 | ENST00000295901 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| Frame-shift | ENST00000302475 | ENST00000492933 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| Frame-shift | ENST00000302475 | ENST00000394431 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| Frame-shift | ENST00000302475 | ENST00000482510 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| 5UTR-3CDS | ENST00000514701 | ENST00000295901 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| 5UTR-3CDS | ENST00000514701 | ENST00000492933 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| 5UTR-3CDS | ENST00000514701 | ENST00000394431 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| 5UTR-3CDS | ENST00000514701 | ENST00000482510 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000515367 | ENST00000295901 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000515367 | ENST00000492933 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000515367 | ENST00000394431 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000515367 | ENST00000482510 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000408903 | ENST00000295901 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000408903 | ENST00000492933 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000408903 | ENST00000394431 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
| intron-3CDS | ENST00000408903 | ENST00000482510 | MCC | chr5 | 112630026 | - | PSMD6 | chr3 | 63996631 | - |
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FusionProtFeatures for MCC_PSMD6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MCC | PSMD6 |