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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:FGB-ALDH2 (FusionGDB2 ID:HG2244TG217) |
Fusion Gene Summary for FGB-ALDH2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGB-ALDH2 | Fusion gene ID: hg2244tg217 | Hgene | Tgene | Gene symbol | FGB | ALDH2 | Gene ID | 2244 | 217 |
| Gene name | fibrinogen beta chain | aldehyde dehydrogenase 2 family member | |
| Synonyms | HEL-S-78p | ALDH-E2|ALDHI|ALDM | |
| Cytomap | ('FGB')('ALDH2') 4q31.3 | 12q24.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibrinogen beta chainbeta-fibrinogenepididymis secretory sperm binding protein Li 78pfibrinogen, B beta polypeptide | aldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P02675 | P05091 | |
| Ensembl transtripts involved in fusion gene | ENST00000502545, ENST00000302068, ENST00000509493, | ||
| Fusion gene scores | * DoF score | 10 X 8 X 4=320 | 6 X 9 X 7=378 |
| # samples | 11 | 8 | |
| ** MAII score | log2(11/320*10)=-1.5405683813627 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/378*10)=-2.24031432933371 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FGB [Title/Abstract] AND ALDH2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | FGB(155487717)-ALDH2(112227639), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | FGB-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. FGB-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FGB-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 | FGB | GO:0007160 | cell-matrix adhesion | 10903502 |
| Hgene | FGB | GO:0031639 | plasminogen activation | 16846481 |
| Hgene | FGB | GO:0034116 | positive regulation of heterotypic cell-cell adhesion | 8100742 |
| Hgene | FGB | GO:0034622 | cellular protein-containing complex assembly | 8910396 |
| Hgene | FGB | GO:0042730 | fibrinolysis | 16846481 |
| Hgene | FGB | GO:0043152 | induction of bacterial agglutination | 24367264 |
| Hgene | FGB | GO:0045907 | positive regulation of vasoconstriction | 15739255 |
| Hgene | FGB | GO:0045921 | positive regulation of exocytosis | 19193866 |
| Hgene | FGB | GO:0050714 | positive regulation of protein secretion | 19193866 |
| Hgene | FGB | GO:0051258 | protein polymerization | 12706644 |
| Hgene | FGB | GO:0051592 | response to calcium ion | 6777381 |
| Hgene | FGB | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 10903502|19193866 |
| Hgene | FGB | GO:0070527 | platelet aggregation | 6281794 |
| Hgene | FGB | GO:0072378 | blood coagulation, fibrin clot formation | 16846481 |
| Hgene | FGB | GO:0090277 | positive regulation of peptide hormone secretion | 19193866 |
| Hgene | FGB | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10903502 |
| Hgene | FGB | GO:2000352 | negative regulation of endothelial cell apoptotic process | 10903502 |
| 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 |
| ChimerDB4 | Non-Cancer | TCGA-DD-A1EL-11A | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
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Fusion Gene ORF analysis for FGB-ALDH2 |
| 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 |
| 3UTR-3CDS | ENST00000502545 | ENST00000261733 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| 3UTR-3CDS | ENST00000502545 | ENST00000416293 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| Frame-shift | ENST00000302068 | ENST00000261733 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| Frame-shift | ENST00000302068 | ENST00000416293 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| intron-3CDS | ENST00000509493 | ENST00000261733 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| intron-3CDS | ENST00000509493 | ENST00000416293 | FGB | chr4 | 155487717 | + | ALDH2 | chr12 | 112227639 | + |
| 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 FGB-ALDH2 |
| 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 FGB-ALDH2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:155487717/:112227639) - 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 |
| FGB | ALDH2 |
| FUNCTION: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways. {ECO:0000250|UniProtKB:E9PV24}. |
| 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 FGB-ALDH2 |
| 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 FGB-ALDH2 |
| 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 FGB-ALDH2 |
| 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 | FGB | P02675 | DB11311 | Prothrombin | Cleavage | Biotech | Approved |
| Hgene | FGB | P02675 | DB11571 | Human thrombin | Activator | Biotech | Approved |
| Hgene | FGB | P02675 | DB11572 | Thrombin alfa | Activator | Biotech | Approved |
| Hgene | FGB | P02675 | DB11300 | Thrombin | Activator | Biotech | Approved|Investigational |
| Hgene | FGB | P02675 | DB13151 | Anti-inhibitor coagulant complex | Cleavage | Biotech | Approved|Investigational |
| Tgene | ALDH2 | P05091 | DB00536 | Guanidine | Inhibitor | Small molecule | Approved |
| Tgene | ALDH2 | P05091 | DB00536 | Guanidine | Inhibitor | Small molecule | Approved |
| Tgene | ALDH2 | P05091 | DB00822 | Disulfiram | Inhibitor | Small molecule | Approved |
| Tgene | ALDH2 | P05091 | DB00822 | Disulfiram | Inhibitor | Small molecule | Approved |
| Tgene | ALDH2 | P05091 | DB00157 | NADH | Small molecule | Approved|Nutraceutical | |
| Tgene | ALDH2 | P05091 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for FGB-ALDH2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGB | C2584774 | Congenital hypofibrinogenemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGB | C0272350 | Dysfibrinogenemia, Congenital | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGB | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
| Hgene | FGB | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | FGB | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
| Hgene | FGB | C0030567 | Parkinson Disease | 1 | CTD_human |
| Hgene | FGB | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
| Tgene | C0001973 | Alcoholic Intoxication, Chronic | 7 | CTD_human;PSYGENET | |
| Tgene | C0085762 | Alcohol abuse | 7 | CTD_human;PSYGENET | |
| Tgene | C0001969 | Alcoholic Intoxication | 5 | PSYGENET | |
| Tgene | C0393756 | Hangover from alcohol | 4 | PSYGENET | |
| Tgene | C0236664 | Alcohol-Related Disorders | 3 | PSYGENET | |
| Tgene | C0001956 | Alcohol Use Disorder | 2 | CTD_human | |
| Tgene | C0004096 | Asthma | 2 | CTD_human | |
| Tgene | C0005586 | Bipolar Disorder | 2 | PSYGENET | |
| Tgene | C0279626 | Squamous cell carcinoma of esophagus | 2 | CTD_human | |
| Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human | |
| Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
| Tgene | C0014859 | Esophageal Neoplasms | 1 | CTD_human | |
| Tgene | C0016382 | Flushing | 1 | CTD_human | |
| Tgene | C0016689 | Freckles | 1 | CTD_human | |
| Tgene | C0021364 | Male infertility | 1 | CTD_human | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0025209 | Melanosis | 1 | CTD_human | |
| Tgene | C0025218 | Chloasma | 1 | CTD_human | |
| Tgene | C0028796 | Dermatitis, Occupational | 1 | CTD_human | |
| Tgene | C0032927 | Precancerous Conditions | 1 | CTD_human | |
| Tgene | C0042373 | Vascular Diseases | 1 | CTD_human | |
| Tgene | C0086457 | Industrial Dermatosis | 1 | CTD_human | |
| Tgene | C0236970 | Alcohol-Induced Disorders | 1 | CTD_human | |
| Tgene | C0242973 | Ventricular Dysfunction | 1 | CTD_human | |
| Tgene | C0282313 | Condition, Preneoplastic | 1 | CTD_human | |
| Tgene | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human | |
| Tgene | C0349464 | Wernicke-Korsakoff Syndrome | 1 | PSYGENET | |
| Tgene | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human | |
| Tgene | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human | |
| Tgene | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human | |
| Tgene | C0848676 | Subfertility, Male | 1 | CTD_human | |
| Tgene | C0917731 | Male sterility | 1 | CTD_human | |
| Tgene | C2674838 | ALCOHOL SENSITIVITY, ACUTE | 1 | CTD_human | |
| Tgene | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
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