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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:ALDH2-KCNE1 (FusionGDB2 ID:HG217TG3753) |
Fusion Gene Summary for ALDH2-KCNE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALDH2-KCNE1 | Fusion gene ID: hg217tg3753 | Hgene | Tgene | Gene symbol | ALDH2 | KCNE1 | Gene ID | 217 | 3753 |
| Gene name | aldehyde dehydrogenase 2 family member | potassium voltage-gated channel subfamily E regulatory subunit 1 | |
| Synonyms | ALDH-E2|ALDHI|ALDM | ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK | |
| Cytomap | ('ALDH2')('KCNE1') 12q24.12 | 21q22.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2 | potassium voltage-gated channel subfamily E member 1IKs producing slow voltage-gated potassium channel subunit beta MinkLong QT syndrome 5cardiac delayed rectifier potassium channel proteindelayed rectifier potassium channel subunit IsKminimal potass | |
| Modification date | 20200313 | 20200315 | |
| UniProtAcc | P05091 | P15382 | |
| Ensembl transtripts involved in fusion gene | ENST00000261733, ENST00000416293, | ||
| Fusion gene scores | * DoF score | 26 X 20 X 11=5720 | 3 X 3 X 2=18 |
| # samples | 21 | 4 | |
| ** MAII score | log2(21/5720*10)=-4.76755391399963 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ALDH2 [Title/Abstract] AND KCNE1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ALDH2(112241751)-KCNE1(35819819), # 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 | KCNE1 | GO:0071320 | cellular response to cAMP | 11299204 |
| Tgene | KCNE1 | GO:0071805 | potassium ion transmembrane transport | 8900283|9354802|11299204 |
| Tgene | KCNE1 | GO:0086009 | membrane repolarization | 8900283 |
| Tgene | KCNE1 | GO:0086011 | membrane repolarization during action potential | 8900283|11299204|19646991 |
| Tgene | KCNE1 | GO:0086013 | membrane repolarization during cardiac muscle cell action potential | 8900283 |
| Tgene | KCNE1 | GO:0097623 | potassium ion export across plasma membrane | 8900283|10400998|17289006 |
| Tgene | KCNE1 | GO:1901379 | regulation of potassium ion transmembrane transport | 10400998 |
| Tgene | KCNE1 | GO:1901381 | positive regulation of potassium ion transmembrane transport | 8900283 |
| Tgene | KCNE1 | GO:1902259 | regulation of delayed rectifier potassium channel activity | 10400998 |
| Tgene | KCNE1 | GO:1902260 | negative regulation of delayed rectifier potassium channel activity | 19219384 |
| Fusion gene information * 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 |
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Fusion Gene ORF analysis for ALDH2-KCNE1 |
| 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 |
| 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 ALDH2-KCNE1 |
| 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) |
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Fusion Protein Features for ALDH2-KCNE1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:112241751/:35819819) - 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 |
| ALDH2 | KCNE1 |
| FUNCTION: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr). {ECO:0000269|PubMed:19219384}. |
| 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 ALDH2-KCNE1 |
| 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 ALDH2-KCNE1 |
| 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 ALDH2-KCNE1 |
| 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 |
| Hgene | ALDH2 | P05091 | DB00536 | Guanidine | Inhibitor | Small molecule | Approved |
| Hgene | ALDH2 | P05091 | DB00536 | Guanidine | Inhibitor | Small molecule | Approved |
| Hgene | ALDH2 | P05091 | DB00822 | Disulfiram | Inhibitor | Small molecule | Approved |
| Hgene | ALDH2 | P05091 | DB00822 | Disulfiram | Inhibitor | Small molecule | Approved |
| Hgene | ALDH2 | P05091 | DB00157 | NADH | Small molecule | Approved|Nutraceutical | |
| Hgene | ALDH2 | P05091 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for ALDH2-KCNE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ALDH2 | C0001973 | Alcoholic Intoxication, Chronic | 7 | CTD_human;PSYGENET |
| Hgene | ALDH2 | C0085762 | Alcohol abuse | 7 | CTD_human;PSYGENET |
| Hgene | ALDH2 | C0001969 | Alcoholic Intoxication | 5 | PSYGENET |
| Hgene | ALDH2 | C0393756 | Hangover from alcohol | 4 | PSYGENET |
| Hgene | ALDH2 | C0236664 | Alcohol-Related Disorders | 3 | PSYGENET |
| Hgene | ALDH2 | C0001956 | Alcohol Use Disorder | 2 | CTD_human |
| Hgene | ALDH2 | C0004096 | Asthma | 2 | CTD_human |
| Hgene | ALDH2 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | ALDH2 | C0279626 | Squamous cell carcinoma of esophagus | 2 | CTD_human |
| Hgene | ALDH2 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
| Hgene | ALDH2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ALDH2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | ALDH2 | C0016382 | Flushing | 1 | CTD_human |
| Hgene | ALDH2 | C0016689 | Freckles | 1 | CTD_human |
| Hgene | ALDH2 | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | ALDH2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ALDH2 | C0025209 | Melanosis | 1 | CTD_human |
| Hgene | ALDH2 | C0025218 | Chloasma | 1 | CTD_human |
| Hgene | ALDH2 | C0028796 | Dermatitis, Occupational | 1 | CTD_human |
| Hgene | ALDH2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | ALDH2 | C0042373 | Vascular Diseases | 1 | CTD_human |
| Hgene | ALDH2 | C0086457 | Industrial Dermatosis | 1 | CTD_human |
| Hgene | ALDH2 | C0236970 | Alcohol-Induced Disorders | 1 | CTD_human |
| Hgene | ALDH2 | C0242973 | Ventricular Dysfunction | 1 | CTD_human |
| Hgene | ALDH2 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
| Hgene | ALDH2 | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human |
| Hgene | ALDH2 | C0349464 | Wernicke-Korsakoff Syndrome | 1 | PSYGENET |
| Hgene | ALDH2 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| Hgene | ALDH2 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| Hgene | ALDH2 | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
| Hgene | ALDH2 | C0848676 | Subfertility, Male | 1 | CTD_human |
| Hgene | ALDH2 | C0917731 | Male sterility | 1 | CTD_human |
| Hgene | ALDH2 | C2674838 | ALCOHOL SENSITIVITY, ACUTE | 1 | CTD_human |
| Hgene | ALDH2 | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
| Tgene | C2676723 | JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) | 15 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C1867904 | LONG QT SYNDROME 5 | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0023976 | Long QT Syndrome | 4 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C0022387 | Jervell-Lange Nielsen Syndrome | 2 | CTD_human;ORPHANET | |
| Tgene | C0018781 | Noise-induced hearing loss | 1 | CTD_human | |
| Tgene | C0035828 | Romano-Ward Syndrome | 1 | ORPHANET | |
| Tgene | C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 1 | GENOMICS_ENGLAND | |
| Tgene | C1843687 | ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) | 1 | ORPHANET | |
| Tgene | C4551509 | Jervell And Lange-Nielsen Syndrome 1 | 1 | CTD_human |
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