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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:RCL1-CPEB4 (FusionGDB2 ID:73303)

Fusion Gene Summary for RCL1-CPEB4

check button Fusion gene summary
Fusion gene informationFusion gene name: RCL1-CPEB4
Fusion gene ID: 73303
HgeneTgene
Gene symbol

RCL1

CPEB4

Gene ID

10171

80315

Gene nameRNA terminal phosphate cyclase like 1cytoplasmic polyadenylation element binding protein 4
SynonymsRNAC|RPCL1CPE-BP4|hCPEB-4
Cytomap

9p24.1

5q35.2

Type of geneprotein-codingprotein-coding
DescriptionRNA 3'-terminal phosphate cyclase-like proteinRNA cyclase homologcytoplasmic polyadenylation element-binding protein 4CPE-binding protein 4
Modification date2020031320200313
UniProtAcc.

Q17RY0

Ensembl transtripts involved in fusion geneENST00000381728, ENST00000381730, 
ENST00000381732, ENST00000381750, 
ENST00000445485, ENST00000448872, 
ENST00000265085, ENST00000334035, 
ENST00000517880, ENST00000519467, 
ENST00000519835, ENST00000520867, 
ENST00000522336, 
Fusion gene scores* DoF score6 X 6 X 5=1803 X 3 X 2=18
# samples 63
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RCL1 [Title/Abstract] AND CPEB4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRCL1(4798410)-CPEB4(173385198), # 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

check buttonFusion gene breakpoints across RCL1 (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 CPEB4 (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
ChiTaRS5.0N/AEC565735RCL1chr9

4798410

-CPEB4chr5

173385198

+


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Fusion Gene ORF analysis for RCL1-CPEB4

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
intron-3UTRENST00000381728ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381728ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381730ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381730ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381732ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381732ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381750ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000381750ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000445485ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000445485ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000448872ENST00000265085RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-3UTRENST00000448872ENST00000334035RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381728ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381728ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381728ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381728ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381728ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381730ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381730ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381730ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381730ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381730ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381732ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381732ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381732ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381732ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381732ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381750ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381750ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381750ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381750ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000381750ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000445485ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000445485ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000445485ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000445485ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000445485ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000448872ENST00000517880RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000448872ENST00000519467RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000448872ENST00000519835RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000448872ENST00000520867RCL1chr9

4798410

-CPEB4chr5

173385198

+
intron-intronENST00000448872ENST00000522336RCL1chr9

4798410

-CPEB4chr5

173385198

+

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 RCL1-CPEB4


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 RCL1-CPEB4


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/:4798410/:173385198)
- 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
.CPEB4

Q17RY0

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: Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR (PubMed:24990967). RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE-regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for cell cycle progression, specifically for cytokinesis and chromosomal segregation (PubMed:26398195). Plays a role as an oncogene promoting tumor growth and progression by positively regulating translation of t-plasminogen activator/PLAT (PubMed:22138752). Stimulates proliferation of melanocytes (PubMed:27857118). In contrast to CPEB1 and CPEB3, does not play role in synaptic plasticity, learning and memory (By similarity). {ECO:0000250|UniProtKB:Q7TN98, ECO:0000269|PubMed:22138752, ECO:0000269|PubMed:24990967, ECO:0000269|PubMed:26398195, ECO:0000269|PubMed:27857118}.

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 RCL1-CPEB4


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 RCL1-CPEB4


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 RCL1-CPEB4


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 RCL1-CPEB4


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