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Fusion gene ID: 3895 |
FusionGeneSummary for BBS7_PLA1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBS7_PLA1A | Fusion gene ID: 3895 | Hgene | Tgene | Gene symbol | BBS7 | PLA1A | Gene ID | 55212 | 51365 |
| Gene name | Bardet-Biedl syndrome 7 | phospholipase A1 member A | |
| Synonyms | BBS2L1 | PS-PLA1|PSPLA1 | |
| Cytomap | 4q27 | 3q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Bardet-Biedl syndrome 7 proteinBBS2-like 1 | phospholipase A1 member Aphosphatidylserine-specific phospholipase A1alpha | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IWZ6 | Q53H76 | |
| Ensembl transtripts involved in fusion gene | ENST00000264499, ENST00000506636, | ENST00000273371, ENST00000488919, ENST00000495992, ENST00000494440, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BBS7 [Title/Abstract] AND PLA1A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | LD | PRAD | TCGA-EJ-A65M-01A | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| * 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 | ENST00000264499 | ENST00000273371 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000488919 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000495992 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000494440 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| Frame-shift | ENST00000506636 | ENST00000273371 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000488919 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000495992 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000494440 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
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FusionProtFeatures for BBS7_PLA1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BBS7 | PLA1A |