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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:FGA-CPS1 (FusionGDB2 ID:HG2243TG1373) |
Fusion Gene Summary for FGA-CPS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGA-CPS1 | Fusion gene ID: hg2243tg1373 | Hgene | Tgene | Gene symbol | FGA | CPS1 | Gene ID | 2243 | 1373 |
| Gene name | fibrinogen alpha chain | carbamoyl-phosphate synthase 1 | |
| Synonyms | Fib2 | CPSASE1|PHN | |
| Cytomap | ('FGA')('CPS1') 4q31.3 | 2q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibrinogen alpha chainfibrinogen, A alpha polypeptide | carbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoyl-phosphate synthase (ammonia)carbamoyl-phosphate synthase 1, mitochondrialcarbamoylphosphate synthetase I | |
| Modification date | 20200315 | 20200313 | |
| UniProtAcc | P02671 | P31327 | |
| Ensembl transtripts involved in fusion gene | ENST00000302053, ENST00000403106, | ||
| Fusion gene scores | * DoF score | 8 X 8 X 2=128 | 4 X 4 X 4=64 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FGA [Title/Abstract] AND CPS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | FGA(155506690)-CPS1(211542611), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | FGA-CPS1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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 | FGA | GO:0007160 | cell-matrix adhesion | 10903502 |
| Hgene | FGA | GO:0031639 | plasminogen activation | 16846481 |
| Hgene | FGA | GO:0034116 | positive regulation of heterotypic cell-cell adhesion | 8100742 |
| Hgene | FGA | GO:0034622 | cellular protein-containing complex assembly | 8910396 |
| Hgene | FGA | GO:0042730 | fibrinolysis | 16846481 |
| Hgene | FGA | GO:0043152 | induction of bacterial agglutination | 24367264 |
| Hgene | FGA | GO:0045907 | positive regulation of vasoconstriction | 15739255 |
| Hgene | FGA | GO:0045921 | positive regulation of exocytosis | 19193866 |
| Hgene | FGA | GO:0050714 | positive regulation of protein secretion | 19193866 |
| Hgene | FGA | GO:0051258 | protein polymerization | 12706644 |
| Hgene | FGA | GO:0051592 | response to calcium ion | 6777381 |
| Hgene | FGA | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 10903502|19193866 |
| Hgene | FGA | GO:0070527 | platelet aggregation | 6281794 |
| Hgene | FGA | GO:0072378 | blood coagulation, fibrin clot formation | 16846481 |
| Hgene | FGA | GO:0090277 | positive regulation of peptide hormone secretion | 19193866 |
| Hgene | FGA | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10903502 |
| Hgene | FGA | GO:2000352 | negative regulation of endothelial cell apoptotic process | 10903502 |
| Tgene | CPS1 | GO:0032496 | response to lipopolysaccharide | 15897806 |
| Tgene | CPS1 | GO:0050667 | homocysteine metabolic process | 20031578 |
| 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 |
| ChimerDB4 | LIHC | TCGA-ZP-A9D0-01A | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
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Fusion Gene ORF analysis for FGA-CPS1 |
| 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 |
| 5CDS-intron | ENST00000302053 | ENST00000497121 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| Frame-shift | ENST00000302053 | ENST00000233072 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| Frame-shift | ENST00000302053 | ENST00000430249 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| Frame-shift | ENST00000302053 | ENST00000451903 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-3CDS | ENST00000403106 | ENST00000233072 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-3CDS | ENST00000403106 | ENST00000430249 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-3CDS | ENST00000403106 | ENST00000451903 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-intron | ENST00000403106 | ENST00000497121 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| 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 FGA-CPS1 |
| 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) |
| FGA | chr4 | 155506689 | - | CPS1 | chr2 | 211542610 | + | 0.015513441 | 0.9844865 |
| FGA | chr4 | 155506689 | - | CPS1 | chr2 | 211542610 | + | 0.015513441 | 0.9844865 |
| 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 FGA-CPS1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:155506690/:211542611) - 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 |
| FGA | CPS1 |
| FUNCTION: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) 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 via an ITGB3-dependent pathway. 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 immune response via both innate and T-cell mediated pathways. {ECO:0000250|UniProtKB:E9PV24}. | FUNCTION: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. |
| 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 FGA-CPS1 |
| 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 FGA-CPS1 |
| 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 FGA-CPS1 |
| 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 | FGA | P02671 | DB00009 | Alteplase | Biotech | Approved | |
| Hgene | FGA | P02671 | DB00029 | Anistreplase | Biotech | Approved | |
| Hgene | FGA | P02671 | DB00031 | Tenecteplase | Biotech | Approved | |
| Hgene | FGA | P02671 | DB11311 | Prothrombin | Cleavage | Biotech | Approved |
| Hgene | FGA | P02671 | DB11571 | Human thrombin | Activator | Biotech | Approved |
| Hgene | FGA | P02671 | DB11572 | Thrombin alfa | Activator | Biotech | Approved |
| Hgene | FGA | P02671 | DB14548 | Zinc sulfate, unspecified form | Binder | Small molecule | Approved|Experimental |
| Hgene | FGA | P02671 | DB00015 | Reteplase | Biotech | Approved|Investigational | |
| Hgene | FGA | P02671 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | FGA | P02671 | DB05099 | Ancrod | Biotech | Approved|Investigational | |
| Hgene | FGA | P02671 | DB11300 | Thrombin | Activator | Biotech | Approved|Investigational |
| Hgene | FGA | P02671 | DB13151 | Anti-inhibitor coagulant complex | Cleavage | Biotech | Approved|Investigational |
| Hgene | FGA | P02671 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | FGA | P02671 | DB14533 | Zinc chloride | Binder | Small molecule | Approved|Investigational |
| Tgene | CPS1 | P31327 | DB06775 | Carglumic acid | Allosteric modulator | Small molecule | Approved |
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Related Diseases for FGA-CPS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGA | C2584774 | Congenital hypofibrinogenemia | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGA | C0272350 | Dysfibrinogenemia, Congenital | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGA | C0001733 | Afibrinogenemia | 4 | CTD_human |
| Hgene | FGA | C4316812 | Fibrinogen Deficiency | 4 | CTD_human;GENOMICS_ENGLAND |
| Hgene | FGA | C0268389 | Amyloidosis, familial visceral | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | FGA | C0022658 | Kidney Diseases | 2 | CTD_human |
| Hgene | FGA | C0740340 | Amyloidosis, Familial | 2 | CTD_human |
| Hgene | FGA | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
| Hgene | FGA | C0008370 | Cholestasis | 1 | CTD_human |
| Hgene | FGA | C0013221 | Drug toxicity | 1 | CTD_human |
| Hgene | FGA | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Hgene | FGA | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | FGA | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | FGA | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
| Hgene | FGA | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| Hgene | FGA | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Hgene | FGA | C0040053 | Thrombosis | 1 | CTD_human;GENOMICS_ENGLAND |
| Hgene | FGA | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | FGA | C0087086 | Thrombus | 1 | CTD_human |
| Hgene | FGA | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
| Hgene | FGA | C0398623 | Thrombophilia | 1 | CTD_human;GENOMICS_ENGLAND |
| Hgene | FGA | C0524702 | Pulmonary Thromboembolisms | 1 | CTD_human |
| Hgene | FGA | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
| Hgene | FGA | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human |
| Hgene | FGA | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Hgene | FGA | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Hgene | FGA | C1861172 | Venous Thromboembolism | 1 | CTD_human |
| Hgene | FGA | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Hgene | FGA | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Hgene | FGA | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
| Tgene | C4082171 | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | 19 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 13 | CLINGEN;CTD_human;ORPHANET | |
| Tgene | C0220994 | Hyperammonemia | 2 | CTD_human | |
| Tgene | C4085580 | Carbamoyl Phosphate Synthase 1 Deficiency | 2 | CTD_human | |
| Tgene | C0009421 | Comatose | 1 | CTD_human | |
| Tgene | C0019193 | Hepatitis, Toxic | 1 | CTD_human | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0031190 | Persistent Fetal Circulation Syndrome | 1 | CTD_human | |
| Tgene | C0032927 | Precancerous Conditions | 1 | CTD_human | |
| Tgene | C0282313 | Condition, Preneoplastic | 1 | CTD_human | |
| Tgene | C0376618 | Endotoxemia | 1 | CTD_human | |
| Tgene | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human | |
| Tgene | C0860634 | Psychogenic coma | 1 | CTD_human | |
| Tgene | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human | |
| 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 |
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