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Fusion gene ID: 27356 |
FusionGeneSummary for PKD1_UBE2I |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PKD1_UBE2I | Fusion gene ID: 27356 | Hgene | Tgene | Gene symbol | PKD1 | UBE2I | Gene ID | 5310 | 7329 |
| Gene name | polycystin 1, transient receptor potential channel interacting | ubiquitin conjugating enzyme E2 I | |
| Synonyms | PBP|PC1|Pc-1|TRPP1 | C358B7.1|P18|UBC9 | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1 | SUMO-conjugating enzyme UBC9RING-type E3 SUMO transferase UBC9SUMO-1-protein ligaseSUMO-protein ligaseubiquitin carrier protein 9ubiquitin carrier protein Iubiquitin conjugating enzyme 9ubiquitin conjugating enzyme E2Iubiquitin-conjugating enzyme | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P98161 | P63279 | |
| Ensembl transtripts involved in fusion gene | ENST00000423118, ENST00000262304, ENST00000561991, | ENST00000339021, ENST00000355803, ENST00000325437, ENST00000397514, ENST00000397515, ENST00000403747, ENST00000566587, ENST00000406620, ENST00000402301, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 5 X 5=125 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: PKD1 [Title/Abstract] AND UBE2I [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 | PKD1 | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 16311606 |
| Hgene | PKD1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16311606 |
| Hgene | PKD1 | GO:0048754 | branching morphogenesis of an epithelial tube | 12482949 |
| Hgene | PKD1 | GO:0061136 | regulation of proteasomal protein catabolic process | 23001567 |
| Tgene | UBE2I | GO:0016925 | protein sumoylation | 15660128|19955185|21968017 |
| Tgene | UBE2I | GO:0045892 | negative regulation of transcription, DNA-templated | 16631117 |
| Tgene | UBE2I | GO:1903755 | positive regulation of SUMO transferase activity | 19955185 |
| 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 | CESC | TCGA-C5-A2LX-01A | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| * 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 |
| 5CDS-intron | ENST00000423118 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
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FusionProtFeatures for PKD1_UBE2I |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PKD1 | UBE2I |