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Fusion gene ID: 2604 |
FusionGeneSummary for ARID1A_BEND5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID1A_BEND5 | Fusion gene ID: 2604 | Hgene | Tgene | Gene symbol | ARID1A | BEND5 | Gene ID | 8289 | 79656 |
| Gene name | AT-rich interaction domain 1A | BEN domain containing 5 | |
| Synonyms | B120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1 | C1orf165 | |
| Cytomap | 1p36.11 | 1p33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated, | BEN domain-containing protein 5 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O14497 | Q7L4P6 | |
| Ensembl transtripts involved in fusion gene | ENST00000324856, ENST00000457599, ENST00000374152, ENST00000540690, | ENST00000371833, ENST00000476096, | |
| Fusion gene scores | * DoF score | 21 X 13 X 13=3549 | 3 X 2 X 3=18 |
| # samples | 31 | 4 | |
| ** MAII score | log2(31/3549*10)=-3.51707245378671 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ARID1A [Title/Abstract] AND BEND5 [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. | ||
| * 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 | ARID1A | GO:0006337 | nucleosome disassembly | 8895581 |
| Hgene | ARID1A | GO:0006338 | chromatin remodeling | 11726552 |
| Hgene | ARID1A | GO:0030520 | intracellular estrogen receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0030521 | androgen receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0042921 | glucocorticoid receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0045893 | positive regulation of transcription, DNA-templated | 12200431 |
| Tgene | BEND5 | GO:0045892 | negative regulation of transcription, DNA-templated | 23468431 |
| 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 | GBM | TCGA-28-2514-01A | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| * 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 | ENST00000324856 | ENST00000371833 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| 5CDS-intron | ENST00000324856 | ENST00000476096 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| In-frame | ENST00000457599 | ENST00000371833 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| 5CDS-intron | ENST00000457599 | ENST00000476096 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| intron-3CDS | ENST00000374152 | ENST00000371833 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| intron-intron | ENST00000374152 | ENST00000476096 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| intron-3CDS | ENST00000540690 | ENST00000371833 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
| intron-intron | ENST00000540690 | ENST00000476096 | ARID1A | chr1 | 27024031 | + | BEND5 | chr1 | 49202124 | - |
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FusionProtFeatures for ARID1A_BEND5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID1A | BEND5 |