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Fusion gene ID: 3886 |
FusionGeneSummary for BBS10_FGFR3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBS10_FGFR3 | Fusion gene ID: 3886 | Hgene | Tgene | Gene symbol | BBS10 | FGFR3 | Gene ID | 79738 | 2261 |
| Gene name | Bardet-Biedl syndrome 10 | fibroblast growth factor receptor 3 | |
| Synonyms | C12orf58 | ACH|CD333|CEK2|HSFGFR3EX|JTK4 | |
| Cytomap | 12q21.2 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Bardet-Biedl syndrome 10 protein | fibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4hydroxyaryl-protein kinasetyrosine kinase JTK4 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8TAM1 | P22607 | |
| Ensembl transtripts involved in fusion gene | ENST00000393262, | ENST00000481110, ENST00000440486, ENST00000412135, ENST00000340107, ENST00000260795, ENST00000352904, ENST00000474521, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 6 X 6=108 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BBS10 [Title/Abstract] AND FGFR3 [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 |
| Tgene | FGFR3 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044 |
| Tgene | FGFR3 | GO:0018108 | peptidyl-tyrosine phosphorylation | 11294897 |
| Tgene | FGFR3 | GO:0046777 | protein autophosphorylation | 11294897 |
| 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 |
| ChiTaRS3.1 | BF842660 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| * 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 |
| intron-3UTR | ENST00000393262 | ENST00000481110 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000440486 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000412135 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000340107 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000260795 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-3UTR | ENST00000393262 | ENST00000352904 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
| intron-intron | ENST00000393262 | ENST00000474521 | BBS10 | chr12 | 76740240 | + | FGFR3 | chr4 | 1810437 | + |
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FusionProtFeatures for BBS10_FGFR3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BBS10 | FGFR3 |