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Fusion gene ID: 34811 |
FusionGeneSummary for SMARCB1_ACR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMARCB1_ACR | Fusion gene ID: 34811 | Hgene | Tgene | Gene symbol | SMARCB1 | ACR | Gene ID | 6598 | 49 |
| Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 | acrosin | |
| Synonyms | BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS | - | |
| Cytomap | 22q11.23|22q11 | 22q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1BRG1-associated factor 47SNF5 homologSWI/SNF-related matrix-associated proteinhSNF5integrase interactor 1 proteinmalignant rhabdoid tumor suppressorprotein | acrosinacrosin light and heavy chain prepropeptidepreproacrosinproacrosin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q12824 | P10323 | |
| Ensembl transtripts involved in fusion gene | ENST00000344921, ENST00000263121, ENST00000407422, ENST00000407082, ENST00000477836, | ENST00000216139, ENST00000529621, ENST00000527761, | |
| Fusion gene scores | * DoF score | 7 X 11 X 4=308 | 1 X 1 X 1=1 |
| # samples | 18 | 1 | |
| ** MAII score | log2(18/308*10)=-0.774933444365227 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SMARCB1 [Title/Abstract] AND ACR [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 | SMARCB1 | GO:0006337 | nucleosome disassembly | 8895581 |
| Hgene | SMARCB1 | GO:0006338 | chromatin remodeling | 11726552 |
| Hgene | SMARCB1 | GO:0039692 | single stranded viral RNA replication via double stranded DNA intermediate | 14963118 |
| Hgene | SMARCB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11950834 |
| Hgene | SMARCB1 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 11950834 |
| Hgene | SMARCB1 | GO:1902661 | positive regulation of glucose mediated signaling pathway | 22368283 |
| Tgene | ACR | GO:0007190 | activation of adenylate cyclase activity | 3880736 |
| 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 | HNSC | TCGA-CV-6941-01A | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| * 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 | ENST00000344921 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000344921 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000344921 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| Frame-shift | ENST00000263121 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000263121 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000263121 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| Frame-shift | ENST00000407422 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000407422 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000407422 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| Frame-shift | ENST00000407082 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000407082 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| 5CDS-intron | ENST00000407082 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| intron-3CDS | ENST00000477836 | ENST00000216139 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| intron-intron | ENST00000477836 | ENST00000529621 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
| intron-intron | ENST00000477836 | ENST00000527761 | SMARCB1 | chr22 | 24167602 | + | ACR | chr22 | 51182489 | + |
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FusionProtFeatures for SMARCB1_ACR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMARCB1 | ACR |