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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:MAFB-GABRB3 (FusionGDB2 ID:50709) |
Fusion Gene Summary for MAFB-GABRB3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAFB-GABRB3 | Fusion gene ID: 50709 | Hgene | Tgene | Gene symbol | MAFB | GABRB3 | Gene ID | 9935 | 2562 |
| Gene name | MAF bZIP transcription factor B | gamma-aminobutyric acid type A receptor subunit beta3 | |
| Synonyms | DURS3|KRML|MCTO | ECA5|EIEE43 | |
| Cytomap | 20q12 | 15q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor MafBKreisler maf-related leucine zipper homologMAFB/Kreisler basic region/leucine zipper transcription factorv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B | gamma-aminobutyric acid receptor subunit beta-3GABA-alpha receptor beta-2 subunitGABAA receptor beta-3 subunitgamma-aminobutyric acid (GABA) A receptor, beta 3gamma-aminobutyric acid A receptor beta 3gamma-aminobutyric acid type A receptor beta3 subu | |
| Modification date | 20200313 | 20200320 | |
| UniProtAcc | Q9Y5Q3 | P28472 | |
| Ensembl transtripts involved in fusion gene | ENST00000373313, ENST00000396967, | ENST00000299267, ENST00000311550, ENST00000400188, ENST00000541819, ENST00000545868, ENST00000557641, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 5 X 3=90 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAFB [Title/Abstract] AND GABRB3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MAFB(39314829)-GABRB3(26892670), # samples:1 | ||
| 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 | MAFB | GO:0045647 | negative regulation of erythrocyte differentiation | 8620536 |
| Tgene | GABRB3 | GO:0071420 | cellular response to histamine | 18281286 |
| Tgene | GABRB3 | GO:1902476 | chloride transmembrane transport | 9039914 |
| Tgene | GABRB3 | GO:1904862 | inhibitory synapse assembly | 25489750 |
| Fusion gene breakpoints across MAFB (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 GABRB3 (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 |
| ChiTaRS5.0 | N/A | FN064305 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
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Fusion Gene ORF analysis for MAFB-GABRB3 |
| 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 |
| intron-intron | ENST00000373313 | ENST00000299267 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000373313 | ENST00000311550 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000373313 | ENST00000400188 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000373313 | ENST00000541819 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000373313 | ENST00000545868 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000373313 | ENST00000557641 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000299267 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000311550 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000400188 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000541819 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000545868 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| intron-intron | ENST00000396967 | ENST00000557641 | MAFB | chr20 | 39314829 | + | GABRB3 | chr15 | 26892670 | - |
| 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 MAFB-GABRB3 |
| 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) |
| 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 MAFB-GABRB3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39314829/:26892670) - 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 |
| MAFB | GABRB3 |
| FUNCTION: Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Required for the transcriptional activation of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). {ECO:0000250|UniProtKB:P54841, ECO:0000269|PubMed:19143053, ECO:0000269|PubMed:27181683}. | FUNCTION: Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity). {ECO:0000250|UniProtKB:P63080, ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:26950270}. |
| 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 MAFB-GABRB3 |
| 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 MAFB-GABRB3 |
| 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 MAFB-GABRB3 |
| 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 MAFB-GABRB3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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