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Fusion Protein:FOXA3-CYP2C9 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: FOXA3-CYP2C9 | FusionPDB ID: 31046 | FusionGDB2.0 ID: 31046 | Hgene | Tgene | Gene symbol | FOXA3 | CYP2C9 | Gene ID | 3171 | 1559 |
| Gene name | forkhead box A3 | cytochrome P450 family 2 subfamily C member 9 | |
| Synonyms | FKHH3|HNF3G|TCF3G | CPC9|CYP2C|CYP2C10|CYPIIC9|P450IIC9 | |
| Cytomap | 19q13.32 | 10q23.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hepatocyte nuclear factor 3-gammaHNF-3-gammaHNF-3GTCF-3Gfork head-related protein FKH H3forkhead box protein A3transcription factor 3G | cytochrome P450 2C9cytochrome P-450 S-mephenytoin 4-hydroxylasecytochrome P-450MPcytochrome P450 PB-1cytochrome P450, family 2, subfamily C, polypeptide 9flavoprotein-linked monooxygenasemicrosomal monooxygenasexenobiotic monooxygenase | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P55318 | P11712 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000302177, | ENST00000461906, ENST00000260682, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 2 X 1 X 2=4 | 4 X 3 X 3=36 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: FOXA3 [Title/Abstract] AND CYP2C9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FOXA3(46367783)-CYP2C9(96701614), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | FOXA3-CYP2C9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FOXA3-CYP2C9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 | FOXA3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12695546 |
| Tgene | CYP2C9 | GO:0008210 | estrogen metabolic process | 12865317 |
| Tgene | CYP2C9 | GO:0016098 | monoterpenoid metabolic process | 16401082 |
| Tgene | CYP2C9 | GO:0017144 | drug metabolic process | 19219744|19651758 |
| Tgene | CYP2C9 | GO:0019373 | epoxygenase P450 pathway | 7574697 |
| Tgene | CYP2C9 | GO:0019627 | urea metabolic process | 19029318 |
| Tgene | CYP2C9 | GO:0032787 | monocarboxylic acid metabolic process | 19651758 |
| Tgene | CYP2C9 | GO:0042738 | exogenous drug catabolic process | 18619574 |
| Tgene | CYP2C9 | GO:0043603 | cellular amide metabolic process | 19651758 |
| Tgene | CYP2C9 | GO:0046456 | icosanoid biosynthetic process | 15766564 |
| Tgene | CYP2C9 | GO:0055114 | oxidation-reduction process | 16401082|19219744 |
| Tgene | CYP2C9 | GO:0070989 | oxidative demethylation | 18619574 |
| Fusion gene breakpoints across FOXA3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CYP2C9 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | STAD | TCGA-VQ-A923 | FOXA3 | chr19 | 46367783 | + | CYP2C9 | chr10 | 96701614 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000302177 | FOXA3 | chr19 | 46367783 | + | ENST00000260682 | CYP2C9 | chr10 | 96701614 | + | 1933 | 266 | 197 | 1570 | 457 |
| 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 |
| ENST00000302177 | ENST00000260682 | FOXA3 | chr19 | 46367783 | + | CYP2C9 | chr10 | 96701614 | + | 0.001344861 | 0.9986551 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >31046_31046_1_FOXA3-CYP2C9_FOXA3_chr19_46367783_ENST00000302177_CYP2C9_chr10_96701614_ENST00000260682_length(amino acids)=457AA_BP=23 MLGSVKMEAHDLAEWSYYPEAGELSKVYGPVFTLYFGLKPIVVLHGYEAVKEALIDLGEEFSGRGIFPLAERANRGFGIVFSNGKKWKEI RRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTKASPCDPTFILGCAPCNVICSIIFHKRFDYKDQQFLNLMEKLNENIKILSSPWI QICNNFSPIIDYFPGTHNKLLKNVAFMKSYILEKVKEHQESMDMNNPQDFIDCFLMKMEKEKHNQPSEFTIESLENTAVDLFGAGTETTS TTLRYALLLLLKHPEVTAKVQEEIERVIGRNRSPCMQDRSHMPYTDAVVHEVQRYIDLLPTSLPHAVTCDIKFRNYLIPKGTTILISLTS VLHDNKEFPNPEMFDPHHFLDEGGNFKKSKYFMPFSAGKRICVGEALAGMELFLFLTSILQNFNLKSLVDPKNLDTTPVVNGFASVPPFY -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:46367783/chr10:96701614) - 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 |
| FOXA3 | CYP2C9 |
| FUNCTION: Transcription factor that is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites (By similarity). Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC1 promoter. Binds to the CYP3A4 promoter and activates its transcription in cooperation with CEBPA. Binds to the CYP3A7 promoter together with members of the CTF/NF-I family. Involved in regulation of neuronal-specific transcription. May be involved in regulation of spermatogenesis. {ECO:0000250, ECO:0000269|PubMed:12695546}. | FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids (PubMed:7574697, PubMed:9866708, PubMed:9435160, PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:7574697, PubMed:9866708, PubMed:9435160, PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:7574697, PubMed:15766564, PubMed:19965576, PubMed:9866708). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Exhibits low catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes bisallylic hydroxylation and hydroxylation with double-bond migration of polyunsaturated fatty acids (PUFA) (PubMed:9866708, PubMed:9435160). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan (PubMed:25994031). {ECO:0000269|PubMed:11950794, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:15766564, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:21576599, ECO:0000269|PubMed:25994031, ECO:0000269|PubMed:7574697, ECO:0000269|PubMed:9435160, ECO:0000269|PubMed:9866708}. |
| 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. |
| - 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 |
| - 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 |
| Hgene | FOXA3 | chr19:46367783 | chr10:96701614 | ENST00000302177 | + | 1 | 2 | 116_207 | 23.0 | 351.0 | DNA binding | Fork-head |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| FOXA3 | |
| CYP2C9 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to FOXA3-CYP2C9 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to FOXA3-CYP2C9 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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