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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:EDC3-CYP1A1 (FusionGDB2 ID:24942)

Fusion Gene Summary for EDC3-CYP1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDC3-CYP1A1
Fusion gene ID: 24942
HgeneTgene
Gene symbol

EDC3

CYP1A1

Gene ID

80153

1543

Gene nameenhancer of mRNA decapping 3cytochrome P450 family 1 subfamily A member 1
SynonymsLSM16|MRT50|YJDC|YJEFN2|hYjeF_N2-15q23AHH|AHRR|CP11|CYP1|CYPIA1|P1-450|P450-C|P450DX
Cytomap

15q24.1

15q24.1

Type of geneprotein-codingprotein-coding
Descriptionenhancer of mRNA-decapping protein 3LSM16 homolog (EDC3, S. cerevisiae)enhancer of mRNA decapping 3 homologyjeF N-terminal domain-containing protein 2yjeF domain containingyjeF domain-containing protein 1cytochrome P450 1A1aryl hydrocarbon hydroxylasecytochrome P1-450, dioxin-induciblecytochrome P450 form 6cytochrome P450, family 1, subfamily A, polypeptide 1cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1cytochrome P450-Cc
Modification date2020032720200322
UniProtAcc

Q96F86

P04798

Ensembl transtripts involved in fusion geneENST00000315127, ENST00000426797, 
ENST00000568176, ENST00000562047, 
ENST00000379727, ENST00000395048, 
ENST00000395049, ENST00000567032, 
ENST00000564596, 
Fusion gene scores* DoF score10 X 9 X 6=5401 X 1 X 1=1
# samples 121
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: EDC3 [Title/Abstract] AND CYP1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEDC3(74948074)-CYP1A1(75015467), # 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
TgeneCYP1A1

GO:0002933

lipid hydroxylation

14559847

TgeneCYP1A1

GO:0006631

fatty acid metabolic process

15041462

TgeneCYP1A1

GO:0008202

steroid metabolic process

14559847

TgeneCYP1A1

GO:0008210

estrogen metabolic process

11555828|12865317|14559847

TgeneCYP1A1

GO:0017144

drug metabolic process

19219744

TgeneCYP1A1

GO:0042572

retinol metabolic process

10681376

TgeneCYP1A1

GO:0055114

oxidation-reduction process

19219744

TgeneCYP1A1

GO:0071407

cellular response to organic cyclic compound

23275542


check buttonFusion gene breakpoints across EDC3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CYP1A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-HF-7133-01AEDC3chr15

74948074

-CYP1A1chr15

75015467

-


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Fusion Gene ORF analysis for EDC3-CYP1A1

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-5UTRENST00000315127ENST00000379727EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000315127ENST00000395048EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000315127ENST00000395049EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000315127ENST00000567032EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000426797ENST00000379727EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000426797ENST00000395048EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000426797ENST00000395049EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000426797ENST00000567032EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000568176ENST00000379727EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000568176ENST00000395048EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000568176ENST00000395049EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-5UTRENST00000568176ENST00000567032EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-intronENST00000315127ENST00000564596EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-intronENST00000426797ENST00000564596EDC3chr15

74948074

-CYP1A1chr15

75015467

-
5CDS-intronENST00000568176ENST00000564596EDC3chr15

74948074

-CYP1A1chr15

75015467

-
intron-5UTRENST00000562047ENST00000379727EDC3chr15

74948074

-CYP1A1chr15

75015467

-
intron-5UTRENST00000562047ENST00000395048EDC3chr15

74948074

-CYP1A1chr15

75015467

-
intron-5UTRENST00000562047ENST00000395049EDC3chr15

74948074

-CYP1A1chr15

75015467

-
intron-5UTRENST00000562047ENST00000567032EDC3chr15

74948074

-CYP1A1chr15

75015467

-
intron-intronENST00000562047ENST00000564596EDC3chr15

74948074

-CYP1A1chr15

75015467

-

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)

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

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Fusion Genomic Features for EDC3-CYP1A1


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)

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.

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.

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Fusion Protein Features for EDC3-CYP1A1


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/:74948074/:75015467)
- 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
EDC3

Q96F86

CYP1A1

P04798

FUNCTION: Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis. {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:17533573, ECO:0000269|PubMed:18678652, ECO:0000269|PubMed:25701870}.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). 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:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301, PubMed:15041462, PubMed:18577768, PubMed:19965576, PubMed:20972997, PubMed:10681376). Catalyzes the hydroxylation of carbon-hydrogen bonds. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C15-alpha and C16-alpha positions (PubMed:11555828, PubMed:14559847, PubMed:12865317, PubMed:15805301). Displays different regioselectivities for polyunsaturated fatty acids (PUFA) hydroxylation (PubMed:15041462, PubMed:18577768). Catalyzes the epoxidation of double bonds of certain PUFA (PubMed:15041462, PubMed:19965576, PubMed:20972997). Converts arachidonic acid toward epoxyeicosatrienoic acid (EET) regioisomers, 8,9-, 11,12-, and 14,15-EET, that function as lipid mediators in the vascular system (PubMed:20972997). Displays an absolute stereoselectivity in the epoxidation of eicosapentaenoic acid (EPA) producing the 17(R),18(S) enantiomer (PubMed:15041462). May play an important role in all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376). May also participate in eicosanoids metabolism by converting hydroperoxide species into oxo metabolites (lipoxygenase-like reaction, NADPH-independent) (PubMed:21068195). {ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11555828, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:14559847, ECO:0000269|PubMed:15041462, ECO:0000269|PubMed:15805301, ECO:0000269|PubMed:18577768, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:20972997, ECO:0000269|PubMed:21068195}.

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


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Fusion Gene Sequence for EDC3-CYP1A1


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.

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Fusion Gene PPI Analysis for EDC3-CYP1A1


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 EDC3-CYP1A1


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 EDC3-CYP1A1


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