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Fusion gene ID: 40577 |
FusionGeneSummary for UBQLN1_NLRP5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBQLN1_NLRP5 | Fusion gene ID: 40577 | Hgene | Tgene | Gene symbol | UBQLN1 | NLRP5 | Gene ID | 29979 | 126206 |
| Gene name | ubiquilin 1 | NLR family pyrin domain containing 5 | |
| Synonyms | DA41|DSK2|PLIC-1|UBQN|XDRP1 | CLR19.8|MATER|NALP5|PAN11|PYPAF8 | |
| Cytomap | 9q21.32|9q21.2-q21.3 | 19q13.43 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquilin-1hPLIC-1protein linking IAP with cytoskeleton 1testicular tissue protein Li 219 | NACHT, LRR and PYD domains-containing protein 5NACHT, leucine rich repeat and PYD containing 5mater protein homologmaternal antigen that embryos requirenucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q9UMX0 | P59047 | |
| Ensembl transtripts involved in fusion gene | ENST00000376395, ENST00000257468, | ENST00000390649, | |
| Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UBQLN1 [Title/Abstract] AND NLRP5 [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 |
| Hgene | UBQLN1 | GO:0031396 | regulation of protein ubiquitination | 12634373 |
| Hgene | UBQLN1 | GO:0031398 | positive regulation of protein ubiquitination | 23307288 |
| Hgene | UBQLN1 | GO:0035973 | aggrephagy | 21143716 |
| 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 | SARC | TCGA-DX-A6YR-01A | UBQLN1 | chr9 | 86292642 | - | NLRP5 | chr19 | 56531741 | + |
| * 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 | ENST00000376395 | ENST00000390649 | UBQLN1 | chr9 | 86292642 | - | NLRP5 | chr19 | 56531741 | + |
| In-frame | ENST00000257468 | ENST00000390649 | UBQLN1 | chr9 | 86292642 | - | NLRP5 | chr19 | 56531741 | + |
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FusionProtFeatures for UBQLN1_NLRP5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBQLN1 | NLRP5 |