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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:DBT-ADH4 (FusionGDB2 ID:21457) |
Fusion Gene Summary for DBT-ADH4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DBT-ADH4 | Fusion gene ID: 21457 | Hgene | Tgene | Gene symbol | DBT | ADH4 | Gene ID | 1629 | 131 |
| Gene name | dihydrolipoamide branched chain transacylase E2 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | |
| Synonyms | BCATE2|BCKAD-E2|BCKADE2|BCOADC-E2|E2|E2B | ADH4 | |
| Cytomap | 1p21.2 | 4q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial52 kDa mitochondrial autoantigen of primary biliary cirrhosisBCKAD E2 subunitE2 component of branched chain alpha-keto acid dehydrogenase complex | all-trans-retinol dehydrogenase [NAD(+)] ADH7alcohol dehydrogenase VIIalcohol dehydrogenase class 4 mu/sigma chainalcohol dehydrogenase class IV mu/sigma chainalcohol dehydrogenase-7class IV sigma-1 alcohol dehydrogenaseclass IV sigmasigma alcohol d | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P11182 | P08319 | |
| Ensembl transtripts involved in fusion gene | ENST00000370132, ENST00000370131, | ENST00000508393, ENST00000265512, ENST00000423445, ENST00000505590, ENST00000504581, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 1 X 1 X 1=1 |
| # samples | 5 | 1 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: DBT [Title/Abstract] AND ADH4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DBT(100679246)-ADH4(100047858), # 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 |
| Tgene | ADH4 | GO:0001523 | retinoid metabolic process | 9600267|16787387 |
| Tgene | ADH4 | GO:0006069 | ethanol oxidation | 7876099|10969996 |
| Tgene | ADH4 | GO:0009617 | response to bacterium | 11410738 |
| Tgene | ADH4 | GO:0010430 | fatty acid omega-oxidation | 9600267 |
| Tgene | ADH4 | GO:0045471 | response to ethanol | 9600267 |
| Tgene | ADH4 | GO:0055114 | oxidation-reduction process | 7876099 |
| Fusion gene breakpoints across DBT (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 ADH4 (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 | CB162414 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
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Fusion Gene ORF analysis for DBT-ADH4 |
| 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-3CDS | ENST00000370132 | ENST00000508393 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370132 | ENST00000265512 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370132 | ENST00000423445 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370132 | ENST00000505590 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-intron | ENST00000370132 | ENST00000504581 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370131 | ENST00000508393 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370131 | ENST00000265512 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370131 | ENST00000423445 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-3CDS | ENST00000370131 | ENST00000505590 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| intron-intron | ENST00000370131 | ENST00000504581 | DBT | chr1 | 100679246 | - | ADH4 | chr4 | 100047858 | - |
| 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 DBT-ADH4 |
| 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 DBT-ADH4 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DBT | ADH4 |
| FUNCTION: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. | FUNCTION: Catalyzes the NAD-dependent oxidation of either all-trans-retinol or 9-cis-retinol (PubMed:17279314). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Also catalyzes the reduction of benzoquinones (PubMed:10514444). {ECO:0000269|PubMed:10514444, ECO:0000269|PubMed:16081420, ECO:0000269|PubMed:17279314}. |
| 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 DBT-ADH4 |
| 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 DBT-ADH4 |
| 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 DBT-ADH4 |
| 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 |
| Tgene | ADH4 | P08319 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for DBT-ADH4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DBT | C0024776 | Maple Syrup Urine Disease | 13 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | DBT | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Hgene | DBT | C0036572 | Seizures | 1 | GENOMICS_ENGLAND |
| Hgene | DBT | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Hgene | DBT | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Hgene | DBT | C1855371 | MAPLE SYRUP URINE DISEASE, TYPE II | 1 | GENOMICS_ENGLAND |
| Hgene | DBT | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Hgene | DBT | C4048158 | Convulsions | 1 | GENOMICS_ENGLAND |
| Hgene | DBT | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Hgene | DBT | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
| Tgene | ADH4 | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET |
| Tgene | ADH4 | C0001956 | Alcohol Use Disorder | 1 | PSYGENET |
| Tgene | ADH4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ADH4 | C0085762 | Alcohol abuse | 1 | PSYGENET |
| Tgene | ADH4 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| Tgene | ADH4 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | ADH4 | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
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