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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:CDC42EP1-PPARA (FusionGDB2 ID:HG11135TG5465)

Fusion Gene Summary for CDC42EP1-PPARA

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42EP1-PPARA
Fusion gene ID: hg11135tg5465
HgeneTgene
Gene symbol

CDC42EP1

PPARA

Gene ID

11135

5465

Gene nameCDC42 effector protein 1peroxisome proliferator activated receptor alpha
SynonymsBORG5|CEP1|MSE55NR1C1|PPAR|PPARalpha|hPPAR
Cytomap('CDC42EP1')('PPARA')

22q13.1

22q13.31

Type of geneprotein-codingprotein-coding
Descriptioncdc42 effector protein 155 kDa bone marrow stromal/endothelial cell proteinCDC42 effector protein (Rho GTPase binding) 1binder of Rho GTPases 5serum constituent proteinserum protein MSE55peroxisome proliferator-activated receptor alphaPPAR-alphanuclear receptor subfamily 1 group C member 1peroxisome proliferative activated receptor, alphaperoxisome proliferator-activated nuclear receptor alpha variant 3
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000249014, 
Fusion gene scores* DoF score2 X 2 X 1=411 X 12 X 3=396
# samples 212
** MAII scorelog2(2/4*10)=2.32192809488736log2(12/396*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC42EP1 [Title/Abstract] AND PPARA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC42EP1(37965412)-PPARA(46637807), # 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
HgeneCDC42EP1

GO:0008360

regulation of cell shape

11035016

HgeneCDC42EP1

GO:0031274

positive regulation of pseudopodium assembly

11035016

TgenePPARA

GO:0000122

negative regulation of transcription by RNA polymerase II

9748239|12700342

TgenePPARA

GO:0010565

regulation of cellular ketone metabolic process

19955185

TgenePPARA

GO:0010745

negative regulation of macrophage derived foam cell differentiation

19114110

TgenePPARA

GO:0010871

negative regulation of receptor biosynthetic process

12700342

TgenePPARA

GO:0010887

negative regulation of cholesterol storage

19114110

TgenePPARA

GO:0010891

negative regulation of sequestering of triglyceride

12700342

TgenePPARA

GO:0019217

regulation of fatty acid metabolic process

19955185

TgenePPARA

GO:0045820

negative regulation of glycolytic process

19955185

TgenePPARA

GO:0045893

positive regulation of transcription, DNA-templated

12955147

TgenePPARA

GO:0045944

positive regulation of transcription by RNA polymerase II

9748239|19955185|20837115

TgenePPARA

GO:0050728

negative regulation of inflammatory response

21636785

TgenePPARA

GO:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

21636785

TgenePPARA

GO:1903038

negative regulation of leukocyte cell-cell adhesion

21636785



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 CDC42EP1-PPARA

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 CDC42EP1-PPARA


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 CDC42EP1-PPARA


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/:37965412/:46637807)
- 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
..
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}.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 CDC42EP1-PPARA


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 CDC42EP1-PPARA


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 CDC42EP1-PPARA


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 CDC42EP1-PPARA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0002152Alloxan Diabetes3CTD_human
TgeneC0011853Diabetes Mellitus, Experimental3CTD_human
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0038433Streptozotocin Diabetes3CTD_human
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0021655Insulin Resistance2CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0028754Obesity2CTD_human
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0920563Insulin Sensitivity2CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0010346Crohn Disease1CTD_human
TgeneC0011615Dermatitis, Atopic1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0015696Fatty Liver, Alcoholic1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0020473Hyperlipidemia1CTD_human
TgeneC0020476Hyperlipoproteinemias1CTD_human
TgeneC0020557Hypertriglyceridemia1CTD_human
TgeneC0020615Hypoglycemia1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0022672Acute Kidney Tubular Necrosis1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0086196Eczema, Infantile1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0156147Crohn's disease of large bowel1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0242339Dyslipidemias1CTD_human
TgeneC0267380Crohn's disease of the ileum1CTD_human
TgeneC0271708Fasting Hypoglycemia1CTD_human
TgeneC0271710Reactive hypoglycemia1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0598784Dyslipoproteinemias1CTD_human
TgeneC0678202Regional enteritis1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0949272IIeocolitis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1706412Lipidemias1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC2718067Alcoholic Steatohepatitis1CTD_human
TgeneC2930930Abdominal obesity metabolic syndrome1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human