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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:CYP1A1-FTSJ3 (FusionGDB2 ID:HG1543TG117246)

Fusion Gene Summary for CYP1A1-FTSJ3

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP1A1-FTSJ3
Fusion gene ID: hg1543tg117246
HgeneTgene
Gene symbol

CYP1A1

FTSJ3

Gene ID

1543

117246

Gene namecytochrome P450 family 1 subfamily A member 1FtsJ RNA 2'-O-methyltransferase 3
SynonymsAHH|AHRR|CP11|CYP1|CYPIA1|P1-450|P450-C|P450DXEPCS3|SPB1
Cytomap('CYP1A1')('FTSJ3')

15q24.1

17q23.3

Type of geneprotein-codingprotein-coding
Descriptioncytochrome 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-Ccpre-rRNA 2'-O-ribose RNA methyltransferase FTSJ32'-O-ribose RNA methyltransferase SPB1 homologFtsJ RNA methyltransferase homolog 3FtsJ homolog 3SPB1 RNA methyltransferase homologpre-rRNA processing protein FTSJ3protein ftsJ homolog 3putative rRNA m
Modification date2020032220200313
UniProtAcc

P04798

.
Ensembl transtripts involved in fusion geneENST00000379727, ENST00000395048, 
ENST00000395049, ENST00000564596, 
ENST00000567032, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 4 X 2=48
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CYP1A1 [Title/Abstract] AND FTSJ3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP1A1(75017787)-FTSJ3(61897663), # 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
HgeneCYP1A1

GO:0002933

lipid hydroxylation

14559847

HgeneCYP1A1

GO:0006631

fatty acid metabolic process

15041462

HgeneCYP1A1

GO:0008202

steroid metabolic process

14559847

HgeneCYP1A1

GO:0008210

estrogen metabolic process

11555828|12865317|14559847

HgeneCYP1A1

GO:0017144

drug metabolic process

19219744

HgeneCYP1A1

GO:0042572

retinol metabolic process

10681376

HgeneCYP1A1

GO:0055114

oxidation-reduction process

19219744

HgeneCYP1A1

GO:0071407

cellular response to organic cyclic compound

23275542

TgeneFTSJ3

GO:0001510

RNA methylation

30626973



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CYP1A1-FTSJ3

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

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 CYP1A1-FTSJ3


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)


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Fusion Protein Features for CYP1A1-FTSJ3


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/:75017787/:61897663)
- 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
CYP1A1

P04798

.
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}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 CYP1A1-FTSJ3


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 CYP1A1-FTSJ3


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 CYP1A1-FTSJ3


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 CYP1A1-FTSJ3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP1A1C0000786Spontaneous abortion2CTD_human
HgeneCYP1A1C0000822Abortion, Tubal2CTD_human
HgeneCYP1A1C0020538Hypertensive disease2CTD_human
HgeneCYP1A1C0033578Prostatic Neoplasms2CTD_human
HgeneCYP1A1C0162820Dermatitis, Allergic Contact2CTD_human
HgeneCYP1A1C0273115Lung Injury2CTD_human
HgeneCYP1A1C0376358Malignant neoplasm of prostate2CTD_human
HgeneCYP1A1C2350344Chronic Lung Injury2CTD_human
HgeneCYP1A1C3830362Early Pregnancy Loss2CTD_human
HgeneCYP1A1C4552766Miscarriage2CTD_human
HgeneCYP1A1C0002152Alloxan Diabetes1CTD_human
HgeneCYP1A1C0003860Arteritis1CTD_human
HgeneCYP1A1C0005612Birth Weight1CTD_human
HgeneCYP1A1C0006142Malignant neoplasm of breast1CTD_human
HgeneCYP1A1C0011609Drug Eruptions1CTD_human
HgeneCYP1A1C0011616Contact Dermatitis1CTD_human
HgeneCYP1A1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCYP1A1C0018552Hamartoma1CTD_human
HgeneCYP1A1C0018800Cardiomegaly1CTD_human
HgeneCYP1A1C0019209Hepatomegaly1CTD_human
HgeneCYP1A1C0020517Hypersensitivity1CTD_human
HgeneCYP1A1C0021364Male infertility1CTD_human
HgeneCYP1A1C0022665Kidney Neoplasm1CTD_human
HgeneCYP1A1C0023976Long QT Syndrome1CTD_human
HgeneCYP1A1C0024117Chronic Obstructive Airway Disease1CTD_human
HgeneCYP1A1C0028797Occupational Diseases1CTD_human
HgeneCYP1A1C0038433Streptozotocin Diabetes1CTD_human
HgeneCYP1A1C0039239Sinus Tachycardia1CTD_human
HgeneCYP1A1C0085096Peripheral Vascular Diseases1CTD_human
HgeneCYP1A1C0086132Depressive Symptoms1PSYGENET
HgeneCYP1A1C0162351Contact hypersensitivity1CTD_human
HgeneCYP1A1C0242706Hyperoxia1CTD_human
HgeneCYP1A1C0406537Morbilliform Drug Reaction1CTD_human
HgeneCYP1A1C0428977Bradycardia1CTD_human
HgeneCYP1A1C0678222Breast Carcinoma1CTD_human
HgeneCYP1A1C0740457Malignant neoplasm of kidney1CTD_human
HgeneCYP1A1C0848676Subfertility, Male1CTD_human
HgeneCYP1A1C0917731Male sterility1CTD_human
HgeneCYP1A1C1257931Mammary Neoplasms, Human1CTD_human
HgeneCYP1A1C1383860Cardiac Hypertrophy1CTD_human
HgeneCYP1A1C1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneCYP1A1C1449862Micronuclei, Genotoxicant-Induced1CTD_human
HgeneCYP1A1C1458155Mammary Neoplasms1CTD_human
HgeneCYP1A1C1527303Chronic Airflow Obstruction1CTD_human
HgeneCYP1A1C1527304Allergic Reaction1CTD_human
HgeneCYP1A1C2239176Liver carcinoma1CTD_human
HgeneCYP1A1C4704874Mammary Carcinoma, Human1CTD_human