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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:NEDD4-GABRA5 (FusionGDB2 ID:58408) |
Fusion Gene Summary for NEDD4-GABRA5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NEDD4-GABRA5 | Fusion gene ID: 58408 | Hgene | Tgene | Gene symbol | NEDD4 | GABRA5 | Gene ID | 4734 | 2558 |
| Gene name | NEDD4 E3 ubiquitin protein ligase | gamma-aminobutyric acid type A receptor subunit alpha5 | |
| Synonyms | NEDD4-1|RPF1 | EIEE79 | |
| 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 proteinneural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligasereceptor-potentiating factor 1 | gamma-aminobutyric acid receptor subunit alpha-5GABA(A) receptor subunit alpha-5gamma-aminobutyric acid (GABA) A receptor, alpha 5gamma-aminobutyric acid type A receptor alpha5 subunit | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P46934 | P31644 | |
| Ensembl transtripts involved in fusion gene | ENST00000435532, ENST00000508075, ENST00000338963, ENST00000506154, ENST00000508342, | ENST00000557449, ENST00000335625, ENST00000400081, ENST00000355395, | |
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 3 X 4 X 3=36 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NEDD4 [Title/Abstract] AND GABRA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NEDD4(56285709)-GABRA5(27113876), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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|26263374 |
| 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 breakpoints across NEDD4 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across GABRA5 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BLCA | TCGA-GD-A2C5-01A | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
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Fusion Gene ORF analysis for NEDD4-GABRA5 |
| 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-3UTR | ENST00000435532 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-5UTR | ENST00000435532 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-5UTR | ENST00000435532 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5CDS-intron | ENST00000435532 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-3UTR | ENST00000508075 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-5UTR | ENST00000508075 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-5UTR | ENST00000508075 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| 5UTR-intron | ENST00000508075 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000338963 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000506154 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-3UTR | ENST00000508342 | ENST00000557449 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000338963 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000338963 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000506154 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000506154 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000508342 | ENST00000335625 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-5UTR | ENST00000508342 | ENST00000400081 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000338963 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000506154 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| intron-intron | ENST00000508342 | ENST00000355395 | NEDD4 | chr15 | 56285709 | - | GABRA5 | chr15 | 27113876 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NEDD4-GABRA5 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| NEDD4 | chr15 | 56285708 | - | GABRA5 | chr15 | 27113875 | + | 0.09877116 | 0.9012288 |
| NEDD4 | chr15 | 56285708 | - | GABRA5 | chr15 | 27113875 | + | 0.09877116 | 0.9012288 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for NEDD4-GABRA5 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:56285709/:27113876) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NEDD4 | GABRA5 |
| FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins (PubMed:23644597). Involved in the pathway leading to the degradation of VEGFR-2/KDFR, independently of its ubiquitin-ligase activity. Monoubiquitinates IGF1R at multiple sites, thus leading to receptor internalization and degradation in lysosomes. Ubiquitinates FGFR1, leading to receptor internalization and degradation in lysosomes. Promotes ubiquitination of RAPGEF2. According to PubMed:18562292 the direct link between NEDD4 and PTEN regulation through polyubiquitination described in PubMed:17218260 is questionable. Involved in ubiquitination of ERBB4 intracellular domain E4ICD. Involved in the budding of many viruses. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. Ubiquitinates TNK2 and regulates EGF-induced degradation of EGFR and TNF2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). {ECO:0000269|PubMed:11598133, ECO:0000269|PubMed:17218260, ECO:0000269|PubMed:18305167, ECO:0000269|PubMed:18562292, ECO:0000269|PubMed:20086093, ECO:0000269|PubMed:21399620, ECO:0000269|PubMed:21765395, ECO:0000269|PubMed:23644597, ECO:0000269|PubMed:25631046}.; FUNCTION: (Microbial infection) Involved in the ubiquitination of Ebola virus protein VP40 which plays a role in viral budding. {ECO:0000269|PubMed:12559917}. | FUNCTION: Ligand-gated chloride channel subunit which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May be involved in GABA-A receptor assembly, and GABA-A receptor immobilization and accumulation by gephyrin at the synapse (PubMed:31056671). {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for NEDD4-GABRA5 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for NEDD4-GABRA5 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NEDD4-GABRA5 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NEDD4-GABRA5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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