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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FOXA3-CYP2C9 (FusionGDB2 ID:31046)

Fusion Gene Summary for FOXA3-CYP2C9

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXA3-CYP2C9
Fusion gene ID: 31046
HgeneTgene
Gene symbol

FOXA3

CYP2C9

Gene ID

3171

1559

Gene nameforkhead box A3cytochrome P450 family 2 subfamily C member 9
SynonymsFKHH3|HNF3G|TCF3GCPC9|CYP2C|CYP2C10|CYPIIC9|P450IIC9
Cytomap

19q13.32

10q23.33

Type of geneprotein-codingprotein-coding
Descriptionhepatocyte nuclear factor 3-gammaHNF-3-gammaHNF-3GTCF-3Gfork head-related protein FKH H3forkhead box protein A3transcription factor 3Gcytochrome 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 date2020031320200313
UniProtAcc

P55318

P11712

Ensembl transtripts involved in fusion geneENST00000302177, ENST00000461906, 
ENST00000260682, 
Fusion gene scores* DoF score2 X 1 X 2=44 X 3 X 3=36
# samples 24
** MAII scorelog2(2/4*10)=2.32192809488736log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FOXA3 [Title/Abstract] AND CYP2C9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFOXA3(46367783)-CYP2C9(96701614), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFOXA3

GO:0045944

positive regulation of transcription by RNA polymerase II

12695546

TgeneCYP2C9

GO:0008210

estrogen metabolic process

12865317

TgeneCYP2C9

GO:0016098

monoterpenoid metabolic process

16401082

TgeneCYP2C9

GO:0017144

drug metabolic process

19219744|19651758

TgeneCYP2C9

GO:0019373

epoxygenase P450 pathway

7574697

TgeneCYP2C9

GO:0019627

urea metabolic process

19029318

TgeneCYP2C9

GO:0032787

monocarboxylic acid metabolic process

19651758

TgeneCYP2C9

GO:0042738

exogenous drug catabolic process

18619574

TgeneCYP2C9

GO:0043603

cellular amide metabolic process

19651758

TgeneCYP2C9

GO:0046456

icosanoid biosynthetic process

15766564

TgeneCYP2C9

GO:0055114

oxidation-reduction process

16401082|19219744

TgeneCYP2C9

GO:0070989

oxidative demethylation

18619574


check buttonFusion 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.
all structure

check buttonFusion 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.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-VQ-A923FOXA3chr19

46367783

+CYP2C9chr10

96701614

+


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Fusion Gene ORF analysis for FOXA3-CYP2C9

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000302177ENST00000461906FOXA3chr19

46367783

+CYP2C9chr10

96701614

+
In-frameENST00000302177ENST00000260682FOXA3chr19

46367783

+CYP2C9chr10

96701614

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000302177FOXA3chr1946367783+ENST00000260682CYP2C9chr1096701614+19332661971570457

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000302177ENST00000260682FOXA3chr1946367783+CYP2C9chr1096701614+0.0013448610.9986551

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Fusion Genomic Features for FOXA3-CYP2C9


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
FOXA3chr1946367783+CYP2C9chr1096701614+6.95E-050.9999305
FOXA3chr1946367783+CYP2C9chr1096701614+6.95E-050.9999305

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution 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.
genomic feature of top 1%

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Fusion Protein Features for FOXA3-CYP2C9


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FOXA3

P55318

CYP2C9

P11712

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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFOXA3chr19:46367783chr10:96701614ENST00000302177+12116_20723351.0DNA bindingFork-head


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Fusion Gene Sequence for FOXA3-CYP2C9


check button 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.
>31046_31046_1_FOXA3-CYP2C9_FOXA3_chr19_46367783_ENST00000302177_CYP2C9_chr10_96701614_ENST00000260682_length(transcript)=1933nt_BP=266nt
GGAGCCCGGGGCGGGCGAGGGCGGGGGTGTCCCGGCTATAAAGCGTGGCCGCCTCCCGCGGCGCTCGGGACAGCCGTACCCCGGGCGGTC
GGACGGGCGGGCGCCGGTGGGAGCTCGGGCCGTGCCCGCTGAGAGATCCAGAGCGCTCCGTTCCCCCGGGGCCGGAGCGGGGGCGGGTGG
GGGCGTAAGCCCGGGGGATGCTGGGCTCAGTGAAGATGGAGGCCCATGACCTGGCCGAGTGGAGCTACTACCCGGAGGCGGGCGAGCTCT
CAAAGGTCTATGGCCCTGTGTTCACTCTGTATTTTGGCCTGAAACCCATAGTGGTGCTGCATGGATATGAAGCAGTGAAGGAAGCCCTGA
TTGATCTTGGAGAGGAGTTTTCTGGAAGAGGCATTTTCCCACTGGCTGAAAGAGCTAACAGAGGATTTGGAATTGTTTTCAGCAATGGAA
AGAAATGGAAGGAGATCCGGCGTTTCTCCCTCATGACGCTGCGGAATTTTGGGATGGGGAAGAGGAGCATTGAGGACCGTGTTCAAGAGG
AAGCCCGCTGCCTTGTGGAGGAGTTGAGAAAAACCAAGGCCTCACCCTGTGATCCCACTTTCATCCTGGGCTGTGCTCCCTGCAATGTGA
TCTGCTCCATTATTTTCCATAAACGTTTTGATTATAAAGATCAGCAATTTCTTAACTTAATGGAAAAGTTGAATGAAAACATCAAGATTT
TGAGCAGCCCCTGGATCCAGATCTGCAATAATTTTTCTCCTATCATTGATTACTTCCCGGGAACTCACAACAAATTACTTAAAAACGTTG
CTTTTATGAAAAGTTATATTTTGGAAAAAGTAAAAGAACACCAAGAATCAATGGACATGAACAACCCTCAGGACTTTATTGATTGCTTCC
TGATGAAAATGGAGAAGGAAAAGCACAACCAACCATCTGAATTTACTATTGAAAGCTTGGAAAACACTGCAGTTGACTTGTTTGGAGCTG
GGACAGAGACGACAAGCACAACCCTGAGATATGCTCTCCTTCTCCTGCTGAAGCACCCAGAGGTCACAGCTAAAGTCCAGGAAGAGATTG
AACGTGTGATTGGCAGAAACCGGAGCCCCTGCATGCAAGACAGGAGCCACATGCCCTACACAGATGCTGTGGTGCACGAGGTCCAGAGAT
ACATTGACCTTCTCCCCACCAGCCTGCCCCATGCAGTGACCTGTGACATTAAATTCAGAAACTATCTCATTCCCAAGGGCACAACCATAT
TAATTTCCCTGACTTCTGTGCTACATGACAACAAAGAATTTCCCAACCCAGAGATGTTTGACCCTCATCACTTTCTGGATGAAGGTGGCA
ATTTTAAGAAAAGTAAATACTTCATGCCTTTCTCAGCAGGAAAACGGATTTGTGTGGGAGAAGCCCTGGCCGGCATGGAGCTGTTTTTAT
TCCTGACCTCCATTTTACAGAACTTTAACCTGAAATCTCTGGTTGACCCAAAGAACCTTGACACCACTCCAGTTGTCAATGGATTTGCCT
CTGTGCCGCCCTTCTACCAGCTGTGCTTCATTCCTGTCTGAAGAAGAGCAGATGGCCTGGCTGCTGCTGTGCAGTCCCTGCAGCTCTCTT
TCCTCTGGGGCATTATCCATCTTTCACTATCTGTAATGCCTTTTCTCACCTGTCATCTCACATTTTCCCTTCCCTGAAGATCTAGTGAAC
ATTCGACCTCCATTACGGAGAGTTTCCTATGTTTCACTGTGCAAATATATCTGCTATTCTCCATACTCTGTAACAGTTGCATTGACTGTC
ACATAATGCTCATACTTATCTAATGTTGAGTTATTAATATGTTATTATTAAATAGAGAAATATGATTTGTGTATTATAATTCAAAGGCAT

>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 Gene PPI Analysis for FOXA3-CYP2C9


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FOXA3-CYP2C9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FOXA3-CYP2C9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource