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Fusion gene ID: 23969 |
FusionGeneSummary for NEDD4_GABRA5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NEDD4_GABRA5 | Fusion gene ID: 23969 | Hgene | Tgene | Gene symbol | NEDD4 | GABRA5 | Gene ID | 4734 | 2558 |
| Gene name | neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase | gamma-aminobutyric acid type A receptor alpha5 subunit | |
| Synonyms | NEDD4-1|RPF1 | - | |
| Cytomap | 15q21.3 | 15q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase NEDD4HECT-type E3 ubiquitin transferase NEDD4cell proliferation-inducing gene 53 proteinreceptor-potentiating factor 1 | gamma-aminobutyric acid receptor subunit alpha-5GABA(A) receptor subunit alpha-5gamma-aminobutyric acid (GABA) A receptor, alpha 5 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P46934 | P31644 | |
| Ensembl transtripts involved in fusion gene | ENST00000435532, ENST00000338963, ENST00000508342, ENST00000506154, ENST00000508075, | ENST00000335625, ENST00000355395, ENST00000400081, ENST00000557449, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: NEDD4 [Title/Abstract] AND GABRA5 [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 | NEDD4 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20086093 |
| Hgene | NEDD4 | GO:0006622 | protein targeting to lysosome | 17116753 |
| Hgene | NEDD4 | GO:0007041 | lysosomal transport | 18544533 |
| Hgene | NEDD4 | GO:0010766 | negative regulation of sodium ion transport | 10642508 |
| Hgene | NEDD4 | GO:0016567 | protein ubiquitination | 17996703|18305167|25631046|26280536 |
| Hgene | NEDD4 | GO:0031623 | receptor internalization | 18544533 |
| Hgene | NEDD4 | GO:0032801 | receptor catabolic process | 18544533 |
| Hgene | NEDD4 | GO:0034765 | regulation of ion transmembrane transport | 17289006 |
| Hgene | NEDD4 | GO:0042391 | regulation of membrane potential | 17289006 |
| Hgene | NEDD4 | GO:0042921 | glucocorticoid receptor signaling pathway | 8649367 |
| Hgene | NEDD4 | GO:0045732 | positive regulation of protein catabolic process | 14973438 |
| Hgene | NEDD4 | GO:0046824 | positive regulation of nucleocytoplasmic transport | 17218261 |
| Hgene | NEDD4 | GO:0050847 | progesterone receptor signaling pathway | 8649367 |
| Hgene | NEDD4 | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 17289006 |
| Hgene | NEDD4 | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 10642508 |
| 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 | BLCA | TCGA-GD-A2C5-01A | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| * 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-5UTR | ENST00000435532 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-intron | ENST00000435532 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-5UTR | ENST00000435532 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-3UTR | ENST00000435532 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000338963 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000338963 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000338963 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000338963 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000508342 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000508342 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000508342 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000508342 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000506154 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000506154 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000506154 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000506154 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-5UTR | ENST00000508075 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-intron | ENST00000508075 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-5UTR | ENST00000508075 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-3UTR | ENST00000508075 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
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FusionProtFeatures for NEDD4_GABRA5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NEDD4 | GABRA5 |