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Fusion gene ID: 32666 |
FusionGeneSummary for SASH1_PACRG |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SASH1_PACRG | Fusion gene ID: 32666 | Hgene | Tgene | Gene symbol | SASH1 | PACRG | Gene ID | 23328 | 135138 |
| Gene name | SAM and SH3 domain containing 1 | parkin coregulated | |
| Synonyms | SH3D6A|dJ323M4.1 | GLUP|HAK005771|PARK2CRG | |
| Cytomap | 6q24.3-q25.1 | 6q26 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein | parkin coregulated gene proteinPARK2 co-regulatedPARK2 coregulatedmolecular chaperone/chaperonin-binding proteinparkin co-regulated gene protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O94885 | Q96M98 | |
| Ensembl transtripts involved in fusion gene | ENST00000367469, ENST00000367467, ENST00000470750, | ENST00000337019, ENST00000366889, ENST00000366888, ENST00000542669, | |
| Fusion gene scores | * DoF score | 9 X 6 X 6=324 | 8 X 6 X 11=528 |
| # samples | 8 | 12 | |
| ** MAII score | log2(8/324*10)=-2.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SASH1 [Title/Abstract] AND PACRG [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 | SASH1 | GO:0000209 | protein polyubiquitination | 23776175 |
| Hgene | SASH1 | GO:0010595 | positive regulation of endothelial cell migration | 23776175 |
| Hgene | SASH1 | GO:1900044 | regulation of protein K63-linked ubiquitination | 23776175 |
| Hgene | SASH1 | GO:1902498 | regulation of protein autoubiquitination | 23776175 |
| 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 | CESC | TCGA-JW-AAVH-01A | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| * 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 | ENST00000367469 | ENST00000337019 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| Frame-shift | ENST00000367469 | ENST00000366889 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| Frame-shift | ENST00000367469 | ENST00000366888 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| 5CDS-intron | ENST00000367469 | ENST00000542669 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| Frame-shift | ENST00000367467 | ENST00000337019 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| Frame-shift | ENST00000367467 | ENST00000366889 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| Frame-shift | ENST00000367467 | ENST00000366888 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| 5CDS-intron | ENST00000367467 | ENST00000542669 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| intron-3CDS | ENST00000470750 | ENST00000337019 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| intron-3CDS | ENST00000470750 | ENST00000366889 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| intron-3CDS | ENST00000470750 | ENST00000366888 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
| intron-intron | ENST00000470750 | ENST00000542669 | SASH1 | chr6 | 148711398 | + | PACRG | chr6 | 163510291 | + |
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FusionProtFeatures for SASH1_PACRG |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SASH1 | PACRG |