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Fusion gene ID: 32662 |
FusionGeneSummary for SASH1_ARID1B |
Fusion gene summary |
| Fusion gene information | Fusion gene name: SASH1_ARID1B | Fusion gene ID: 32662 | Hgene | Tgene | Gene symbol | SASH1 | ARID1B | Gene ID | 23328 | 57492 |
| Gene name | SAM and SH3 domain containing 1 | AT-rich interaction domain 1B | |
| Synonyms | SH3D6A|dJ323M4.1 | 6A3-5|BAF250B|BRIGHT|CSS1|DAN15|ELD/OSA1|MRD12|OSA2|P250R | |
| Cytomap | 6q24.3-q25.1 | 6q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein | AT-rich interactive domain-containing protein 1BARID domain-containing protein 1BAT rich interactive domain 1B (SWI1-like)BRG1-associated factor 250bBRG1-binding protein ELD/OSA1ELD (eyelid)/OSA protein | |
| Modification date | 20180523 | 20180529 | |
| UniProtAcc | O94885 | Q8NFD5 | |
| Ensembl transtripts involved in fusion gene | ENST00000367469, ENST00000367467, ENST00000470750, | ENST00000350026, ENST00000346085, ENST00000367148, ENST00000275248, ENST00000478761, | |
| Fusion gene scores | * DoF score | 9 X 6 X 6=324 | 5 X 6 X 3=90 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/324*10)=-2.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SASH1 [Title/Abstract] AND ARID1B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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 | RV | BRCA | TCGA-E9-A1NF-01A | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| * 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 |
| In-frame | ENST00000367469 | ENST00000350026 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367469 | ENST00000346085 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367469 | ENST00000367148 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367469 | ENST00000275248 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| 5CDS-intron | ENST00000367469 | ENST00000478761 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367467 | ENST00000350026 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367467 | ENST00000346085 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367467 | ENST00000367148 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| In-frame | ENST00000367467 | ENST00000275248 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| 5CDS-intron | ENST00000367467 | ENST00000478761 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| intron-3CDS | ENST00000470750 | ENST00000350026 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| intron-3CDS | ENST00000470750 | ENST00000346085 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| intron-3CDS | ENST00000470750 | ENST00000367148 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| intron-3CDS | ENST00000470750 | ENST00000275248 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
| intron-intron | ENST00000470750 | ENST00000478761 | SASH1 | chr6 | 148711398 | + | ARID1B | chr6 | 157256600 | + |
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FusionProtFeatures for SASH1_ARID1B |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SASH1 | ARID1B |