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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:CDC42EP5-RPL28 (FusionGDB2 ID:14892)

Fusion Gene Summary for CDC42EP5-RPL28

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42EP5-RPL28
Fusion gene ID: 14892
HgeneTgene
Gene symbol

CDC42EP5

RPL28

Gene ID

148170

6158

Gene nameCDC42 effector protein 5ribosomal protein L28
SynonymsBorg3|CEP5L28
Cytomap

19q13.42

19q13.42

Type of geneprotein-codingprotein-coding
Descriptioncdc42 effector protein 5CDC42 effector protein (Rho GTPase binding) 5binder of Rho GTPases 360S ribosomal protein L28large ribosomal subunit protein eL28
Modification date2020031320200313
UniProtAcc

Q6NZY7

.
Ensembl transtripts involved in fusion geneENST00000301200, ENST00000472703, 
ENST00000344063, ENST00000428193, 
ENST00000431533, ENST00000558131, 
ENST00000558752, ENST00000558815, 
ENST00000559463, ENST00000560055, 
ENST00000560583, ENST00000458349, 
Fusion gene scores* DoF score8 X 2 X 3=4822 X 19 X 8=3344
# samples 826
** MAII scorelog2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(26/3344*10)=-3.68499131905243
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC42EP5 [Title/Abstract] AND RPL28 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC42EP5(54982766)-RPL28(55897718), # 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
HgeneCDC42EP5

GO:0008360

regulation of cell shape

11035016

HgeneCDC42EP5

GO:0030838

positive regulation of actin filament polymerization

11035016

HgeneCDC42EP5

GO:0031274

positive regulation of pseudopodium assembly

11035016


check buttonFusion gene breakpoints across CDC42EP5 (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 RPL28 (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-IN-7808-01ACDC42EP5chr19

54982766

-RPL28chr19

55897718

+


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Fusion Gene ORF analysis for CDC42EP5-RPL28

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
5UTR-5UTRENST00000301200ENST00000344063CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000428193CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000431533CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000558131CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000558752CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000558815CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000559463CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000560055CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-5UTRENST00000301200ENST00000560583CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
5UTR-intronENST00000301200ENST00000458349CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000344063CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000428193CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000431533CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000558131CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000558752CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000558815CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000559463CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000560055CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-5UTRENST00000472703ENST00000560583CDC42EP5chr19

54982766

-RPL28chr19

55897718

+
intron-intronENST00000472703ENST00000458349CDC42EP5chr19

54982766

-RPL28chr19

55897718

+

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 CDC42EP5-RPL28


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)
CDC42EP5chr1954982765-RPL28chr1955897724+0.0021385860.99786144
CDC42EP5chr1954982765-RPL28chr1955897724+0.0021385860.99786144

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.
genomic feature of top 1%

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Fusion Protein Features for CDC42EP5-RPL28


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/:54982766/:55897718)
- 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
CDC42EP5

Q6NZY7

.
FUNCTION: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (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 CDC42EP5-RPL28


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 CDC42EP5-RPL28


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 CDC42EP5-RPL28


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 CDC42EP5-RPL28


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