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Fusion gene ID: 31026 |
FusionGeneSummary for RFC4_EHHADH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFC4_EHHADH | Fusion gene ID: 31026 | Hgene | Tgene | Gene symbol | RFC4 | EHHADH | Gene ID | 5984 | 1962 |
| Gene name | replication factor C subunit 4 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| Synonyms | A1|RFC37 | ECHD|FRTS3|L-PBE|LBFP|LBP|PBFE | |
| Cytomap | 3q27.3 | 3q27.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | replication factor C subunit 4A1 37 kDa subunitRF-C 37 kDa subunitRFC 37 kDa subunitactivator 1 37 kDa subunitactivator 1 subunit 4replication factor C (activator 1) 4, 37kDareplication factor C 37 kDa subunit | peroxisomal bifunctional enzyme3,2-trans-enoyl-CoA isomeraseL-3-hydroxyacyl-CoA dehydrogenaseL-bifunctional protein, peroxisomalPBEenoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenaseenoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P35249 | Q08426 | |
| Ensembl transtripts involved in fusion gene | ENST00000433496, ENST00000392481, ENST00000296273, | ENST00000231887, ENST00000456310, ENST00000475987, ENST00000440662, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 4 X 5=120 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RFC4 [Title/Abstract] AND EHHADH [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 | RFC4 | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity | 12930902 |
| Tgene | EHHADH | GO:0006475 | internal protein amino acid acetylation | 20167786 |
| 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 | RV | STAD | TCGA-CG-4306-01A | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| * 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 | ENST00000433496 | ENST00000231887 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000433496 | ENST00000456310 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000433496 | ENST00000475987 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000433496 | ENST00000440662 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| Frame-shift | ENST00000392481 | ENST00000231887 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000392481 | ENST00000456310 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000392481 | ENST00000475987 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000392481 | ENST00000440662 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| Frame-shift | ENST00000296273 | ENST00000231887 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000296273 | ENST00000456310 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000296273 | ENST00000475987 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
| 5CDS-5UTR | ENST00000296273 | ENST00000440662 | RFC4 | chr3 | 186510593 | - | EHHADH | chr3 | 184966305 | - |
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FusionProtFeatures for RFC4_EHHADH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFC4 | EHHADH |