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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-ACTB (FusionGDB2 ID:HG217TG60) |
Fusion Gene Summary for ALDH2-ACTB |
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Fusion gene information | Fusion gene name: ALDH2-ACTB | Fusion gene ID: hg217tg60 | Hgene | Tgene | Gene symbol | ALDH2 | ACTB | Gene ID | 217 | 60 |
Gene name | aldehyde dehydrogenase 2 family member | actin beta | |
Synonyms | ALDH-E2|ALDHI|ALDM | BRWS1|PS1TP5BP1 | |
Cytomap | ('ALDH2')('ACTB') 12q24.12 | 7p22.1 | |
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 | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | P05091 | P60709 | |
Ensembl transtripts involved in fusion gene | ENST00000261733, ENST00000416293, | ||
Fusion gene scores | * DoF score | 26 X 20 X 11=5720 | 52 X 37 X 11=21164 |
# samples | 21 | 58 | |
** MAII score | log2(21/5720*10)=-4.76755391399963 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(58/21164*10)=-5.1894156123924 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ALDH2 [Title/Abstract] AND ACTB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ALDH2(112236046)-ACTB(5569294), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
![]() * 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 | ACC | TCGA-OR-A5KY-01A | ALDH2 | chr12 | 112236046 | + | ACTB | chr7 | 5569294 | - |
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Fusion Gene ORF analysis for ALDH2-ACTB |
![]() * 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 | ENST00000261733 | ENST00000331789 | ALDH2 | chr12 | 112236046 | + | ACTB | chr7 | 5569294 | - |
5CDS-5UTR | ENST00000416293 | ENST00000331789 | ALDH2 | chr12 | 112236046 | + | ACTB | chr7 | 5569294 | - |
5CDS-intron | ENST00000261733 | ENST00000464611 | ALDH2 | chr12 | 112236046 | + | ACTB | chr7 | 5569294 | - |
5CDS-intron | ENST00000416293 | ENST00000464611 | ALDH2 | chr12 | 112236046 | + | ACTB | chr7 | 5569294 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ALDH2-ACTB |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ALDH2-ACTB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:112236046/:5569294) - 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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Hgene | Tgene |
ALDH2 | ACTB |
FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}. |
![]() * 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-ACTB |
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Fusion Gene PPI Analysis for ALDH2-ACTB |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ALDH2-ACTB |
![]() (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-ACTB |
![]() (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 | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1846331 | Juvenile-onset dystonia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1853623 | Fryns-Aftimos Syndrome | 2 | GENOMICS_ENGLAND | |
Tgene | C2239176 | Liver carcinoma | 2 | CTD_human | |
Tgene | C0003129 | Anoxemia | 1 | CTD_human | |
Tgene | C0003130 | Anoxia | 1 | CTD_human | |
Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
Tgene | C0005818 | Blood Platelet Disorders | 1 | GENOMICS_ENGLAND | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human | |
Tgene | C0013393 | Dysostoses | 1 | CTD_human | |
Tgene | C0013421 | Dystonia | 1 | CTD_human | |
Tgene | C0014859 | Esophageal Neoplasms | 1 | CTD_human | |
Tgene | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human | |
Tgene | C0019193 | Hepatitis, Toxic | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0029408 | Degenerative polyarthritis | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human | |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0242184 | Hypoxia | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human | |
Tgene | C0263579 | Pigmented hairy epidermal nevus | 1 | ORPHANET | |
Tgene | C0265541 | Cranioschisis | 1 | CTD_human | |
Tgene | C0272183 | Qualitative abnormality of granulocyte | 1 | GENOMICS_ENGLAND | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0393588 | Dystonia, Paroxysmal | 1 | CTD_human | |
Tgene | C0393610 | Dystonia, Diurnal | 1 | CTD_human | |
Tgene | C0497552 | Congenital neurologic anomalies | 1 | CTD_human | |
Tgene | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human | |
Tgene | C0700292 | Hypoxemia | 1 | CTD_human | |
Tgene | C0751093 | Dystonia, Limb | 1 | CTD_human | |
Tgene | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human | |
Tgene | C1691779 | Sensory hearing loss | 1 | CTD_human | |
Tgene | C1858042 | Becker Nevus Syndrome | 1 | ORPHANET | |
Tgene | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human | |
Tgene | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human | |
Tgene | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human | |
Tgene | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |