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Fusion gene ID: 3832 |
FusionGeneSummary for BAP1_PBRM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAP1_PBRM1 | Fusion gene ID: 3832 | Hgene | Tgene | Gene symbol | BAP1 | PBRM1 | Gene ID | 9223 | 55193 |
| Gene name | membrane associated guanylate kinase, WW and PDZ domain containing 1 | polybromo 1 | |
| Synonyms | AIP-3|AIP3|BAIAP1|BAP-1|BAP1|MAGI-1|Magi1d|TNRC19|WWP3 | BAF180|PB1 | |
| Cytomap | 3p14.1 | 3p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1BAI1-associated protein 1WW domain-containing protein 3atrophin-1-interacting protein 3membrane-associated guanylate kinase inverted 1trinucleotide repeat-containing gene 19 | protein polybromo-1BRG1-associated factor 180polybromo-1D | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q92560 | Q86U86 | |
| Ensembl transtripts involved in fusion gene | ENST00000460680, ENST00000296288, | ENST00000356770, ENST00000394830, ENST00000296302, ENST00000337303, ENST00000410007, ENST00000409057, ENST00000409114, ENST00000409767, | |
| Fusion gene scores | * DoF score | 8 X 8 X 5=320 | 5 X 5 X 5=125 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/320*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BAP1 [Title/Abstract] AND PBRM1 [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. Transcription factor involved fusion gene, inframe and retained DNA-binding 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 |
| 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 | SKCM | TCGA-ER-A3ES-06A | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| * 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 | ENST00000460680 | ENST00000356770 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000394830 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000296302 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000337303 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000410007 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000409057 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000409114 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000460680 | ENST00000409767 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000356770 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000394830 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000296302 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000337303 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000410007 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000409057 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000409114 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
| In-frame | ENST00000296288 | ENST00000409767 | BAP1 | chr3 | 52438469 | - | PBRM1 | chr3 | 52663051 | - |
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FusionProtFeatures for BAP1_PBRM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BAP1 | PBRM1 |