|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 35172 |
FusionGeneSummary for SNRNP40_COL6A5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNRNP40_COL6A5 | Fusion gene ID: 35172 | Hgene | Tgene | Gene symbol | SNRNP40 | COL6A5 | Gene ID | 9410 | 256076 |
| Gene name | small nuclear ribonucleoprotein U5 subunit 40 | collagen type VI alpha 5 chain | |
| Synonyms | 40K|HPRP8BP|PRP8BP|PRPF8BP|SPF38|WDR57 | COL29A1|VWA4 | |
| Cytomap | 1p35.2 | 3q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | U5 small nuclear ribonucleoprotein 40 kDa protein38 kDa-splicing factorPrp8-binding proteinU5 snRNP 40 kDa proteinU5 snRNP-specific 40 kDa protein (hPrp8-binding)U5-40KU5-40kD proteinWD repeat domain 57 (U5 snRNP specific)WD repeat-containing prot | collagen alpha-5(VI) chaincollagen, type VI, alpha 5collagen, type XXIX, alpha 1von Willebrand factor A domain-containing protein 4 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q96DI7 | A8TX70 | |
| Ensembl transtripts involved in fusion gene | ENST00000263694, ENST00000489853, ENST00000373720, ENST00000446633, | ENST00000265379, ENST00000432398, | |
| Fusion gene scores | * DoF score | 6 X 3 X 5=90 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SNRNP40 [Title/Abstract] AND COL6A5 [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 | CESC | TCGA-VS-A9UO-01A | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| * 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 | ENST00000263694 | ENST00000265379 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| Frame-shift | ENST00000263694 | ENST00000432398 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| 5UTR-3CDS | ENST00000489853 | ENST00000265379 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| 5UTR-3CDS | ENST00000489853 | ENST00000432398 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| intron-3CDS | ENST00000373720 | ENST00000265379 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| intron-3CDS | ENST00000373720 | ENST00000432398 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| Frame-shift | ENST00000446633 | ENST00000265379 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
| Frame-shift | ENST00000446633 | ENST00000432398 | SNRNP40 | chr1 | 31754221 | - | COL6A5 | chr3 | 130187639 | + |
Top |
FusionProtFeatures for SNRNP40_COL6A5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNRNP40 | COL6A5 |