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Fusion gene ID: 24854 |
FusionGeneSummary for NRG4_SCNN1D |
Fusion gene summary |
| Fusion gene information | Fusion gene name: NRG4_SCNN1D | Fusion gene ID: 24854 | Hgene | Tgene | Gene symbol | NRG4 | SCNN1D | Gene ID | 145957 | 6339 |
| Gene name | neuregulin 4 | sodium channel epithelial 1 delta subunit | |
| Synonyms | HRG4 | ENaCd|ENaCdelta|SCNED|dNaCh | |
| Cytomap | 15q24.2 | 1p36.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pro-neuregulin-4, membrane-bound isoformheregulin 4pro-NRG4 | amiloride-sensitive sodium channel subunit deltadelta-ENaCdelta-NaCHepithelial Na(+) channel subunit deltanonvoltage-gated sodium channel 1 subunit deltasodium channel, non-voltage-gated 1, delta subunitsodium channel, nonvoltage-gated 1, deltasodi | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8WWG1 | P51172 | |
| Ensembl transtripts involved in fusion gene | ENST00000394907, ENST00000535975, ENST00000305435, ENST00000563582, | ENST00000379116, ENST00000338555, ENST00000325425, ENST00000467651, ENST00000400928, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: NRG4 [Title/Abstract] AND SCNN1D [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 | RV | ACC | TCGA-OR-A5J1-01A | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| * 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 | ENST00000394907 | ENST00000379116 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| Frame-shift | ENST00000394907 | ENST00000338555 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| Frame-shift | ENST00000394907 | ENST00000325425 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000394907 | ENST00000467651 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000394907 | ENST00000400928 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| Frame-shift | ENST00000535975 | ENST00000379116 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| Frame-shift | ENST00000535975 | ENST00000338555 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| Frame-shift | ENST00000535975 | ENST00000325425 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000535975 | ENST00000467651 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000535975 | ENST00000400928 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| In-frame | ENST00000305435 | ENST00000379116 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| In-frame | ENST00000305435 | ENST00000338555 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| In-frame | ENST00000305435 | ENST00000325425 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000305435 | ENST00000467651 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| 5CDS-intron | ENST00000305435 | ENST00000400928 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| intron-3CDS | ENST00000563582 | ENST00000379116 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| intron-3CDS | ENST00000563582 | ENST00000338555 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| intron-3CDS | ENST00000563582 | ENST00000325425 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| intron-intron | ENST00000563582 | ENST00000467651 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
| intron-intron | ENST00000563582 | ENST00000400928 | NRG4 | chr15 | 76301541 | - | SCNN1D | chr1 | 1225857 | + |
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FusionProtFeatures for NRG4_SCNN1D |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NRG4 | SCNN1D |