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Fusion gene ID: 13326 |
FusionGeneSummary for FGA_CPS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGA_CPS1 | Fusion gene ID: 13326 | Hgene | Tgene | Gene symbol | FGA | CPS1 | Gene ID | 2243 | 1373 |
| Gene name | fibrinogen alpha chain | carbamoyl-phosphate synthase 1 | |
| Synonyms | Fib2 | CPSASE1|PHN | |
| Cytomap | 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 | 20180520 | 20180523 | |
| UniProtAcc | P02671 | P31327 | |
| Ensembl transtripts involved in fusion gene | ENST00000302053, ENST00000403106, | ENST00000430249, ENST00000233072, ENST00000451903, ENST00000497121, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 4 X 3 X 4=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 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] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LIHC | TCGA-ZP-A9D0-01A | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| Frame-shift | ENST00000302053 | ENST00000430249 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| Frame-shift | ENST00000302053 | ENST00000233072 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| Frame-shift | ENST00000302053 | ENST00000451903 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| 5CDS-intron | ENST00000302053 | ENST00000497121 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-3CDS | ENST00000403106 | ENST00000430249 | FGA | chr4 | 155506690 | - | CPS1 | chr2 | 211542611 | + |
| intron-3CDS | ENST00000403106 | ENST00000233072 | 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 | + |
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FusionProtFeatures for FGA_CPS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FGA | CPS1 |
| Cleaved by the protease thrombin to yield monomerswhich, together with fibrinogen beta (FGB) and fibrinogen gamma(FGG), polymerize to form an insoluble fibrin matrix. Fibrin has amajor function in hemostasis as one of the primary components ofblood clots. In addition, functions during the early stages ofwound repair to stabilize the lesion and guide cell migrationduring re-epithelialization. Was originally thought to beessential for platelet aggregation, based on in vitro studiesusing anticoagulated blood. However, subsequent studies have shownthat 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 successfulpregnancy. Fibrin deposition is also associated with infection,where it protects against IFNG-mediated hemorrhage. May alsofacilitate the immune response via both innate and T-cell mediatedpathways. {ECO:0000250|UniProtKB:E9PV24}. | Involved in the urea cycle of ureotelic animals wherethe enzyme plays an important role in removing excess ammonia fromthe 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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FusionGeneSequence for FGA_CPS1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI 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 |
| FGA | PRRC2A, F2, FGG, FGB, PLAT, NID1, F13A1, HRG, THBS1, CDH5, FGA, KHDRBS2, MIS12, UBC, APOA1, ALB, FN1, ASB6, ASB7, DDX19B, ALDH2, TRIM33, FBXW7, HIST1H2BJ, RING1, SNX27, MAPK6, ITGA2B, ITGB3 | CPS1 | H2AFX, YWHAQ, RICTOR, RAD21, ELAVL1, MYC, FH, SEC22B, CPT1A, MRPS26, HSPA9, LRPPRC, TOMM70A, PCBP1, HSPA1A, ARAF, FBXO6, ASB1, AGO2, ARHGEF26, KIRREL2, RARS2, THBS3, HNRNPH1, HSPA4, HSPA8, HSPH1, HSPA5, DNAJC7, TUBG1, XRCC3, AP1S2, TUBA1C, ARMC6, TCF4, FOXF1, FOXG1, HSD17B10, C2orf47, UBC, KRT1, ALB, LMO2, DEFB121, BPNT1, YBEY, NDUFS7, ACSM5, TMEM70, FOXRED1, DKKL1, OTC, TES |
| - 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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RelatedDrugs for FGA_CPS1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | FGA | P02671 | DB00009 | Alteplase | Fibrinogen alpha chain | biotech | approved |
| Hgene | FGA | P02671 | DB00029 | Anistreplase | Fibrinogen alpha chain | biotech | approved |
| Hgene | FGA | P02671 | DB00031 | Tenecteplase | Fibrinogen alpha chain | biotech | approved |
| Hgene | FGA | P02671 | DB00364 | Sucralfate | Fibrinogen alpha chain | small molecule | approved |
| Hgene | FGA | P02671 | DB00015 | Reteplase | Fibrinogen alpha chain | biotech | approved|investigational |
| Hgene | FGA | P02671 | DB01593 | Zinc | Fibrinogen alpha chain | small molecule | approved|investigational |
| Hgene | FGA | P02671 | DB05099 | Ancrod | Fibrinogen alpha chain | small molecule | approved|investigational |
| Hgene | FGA | P02671 | DB13151 | Anti-inhibitor coagulant complex | Fibrinogen alpha chain | biotech | approved|investigational |
| Tgene | CPS1 | P31327 | DB06775 | Carglumic Acid | Carbamoyl-phosphate synthase [ammonia], mitochondrial | small molecule | approved |
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RelatedDiseases for FGA_CPS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGA | C0001733 | Afibrinogenemia | 4 | CTD_human |
| Hgene | FGA | C0022658 | Kidney Diseases | 2 | CTD_human;HPO |
| Hgene | FGA | C0272350 | Dysfibrinogenemia, Congenital | 2 | ORPHANET;UNIPROT |
| Hgene | FGA | C0740340 | Amyloidosis, Familial | 2 | CTD_human |
| Hgene | FGA | C0008370 | Cholestasis | 1 | CTD_human;HPO |
| Hgene | FGA | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | FGA | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | FGA | C0034065 | Pulmonary Embolism | 1 | CTD_human |
| Hgene | FGA | C0040053 | Thrombosis | 1 | CTD_human |
| Hgene | FGA | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | FGA | C0268389 | Amyloidosis, familial visceral | 1 | CTD_human;UNIPROT |
| Hgene | FGA | C0398623 | Thrombophilia | 1 | CTD_human |
| Hgene | FGA | C1861172 | Venous Thromboembolism | 1 | CTD_human |
| Hgene | FGA | C2584774 | Congenital hypofibrinogenemia | 1 | ORPHANET;UNIPROT |
| Hgene | FGA | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | CPS1 | C4082171 | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | 10 | ORPHANET;UNIPROT |
| Tgene | CPS1 | C0220994 | Hyperammonemia | 2 | CTD_human;HPO |
| Tgene | CPS1 | C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 2 | CTD_human;ORPHANET |
| Tgene | CPS1 | C0009421 | Comatose | 1 | CTD_human;HPO |
| Tgene | CPS1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CPS1 | C0031190 | Persistent Fetal Circulation Syndrome | 1 | CTD_human |
| Tgene | CPS1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | CPS1 | C0376618 | Endotoxemia | 1 | CTD_human |
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