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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:PLEKHB2-SMAD2 (FusionGDB2 ID:66245)

Fusion Gene Summary for PLEKHB2-SMAD2

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHB2-SMAD2
Fusion gene ID: 66245
HgeneTgene
Gene symbol

PLEKHB2

SMAD2

Gene ID

55041

4087

Gene namepleckstrin homology domain containing B2SMAD family member 2
SynonymsEVT2JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2
Cytomap

2q21.1

18q21.1

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family B member 2PH domain-containing family B member 2evectin-2pleckstrin homology domain containing, family B (evectins) member 2mothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2
Modification date2020031320200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000487980, ENST00000234115, 
ENST00000403716, ENST00000404460, 
ENST00000409158, ENST00000438882, 
ENST00000439822, ENST00000538982, 
ENST00000303908, ENST00000409279, 
ENST00000409612, 		ENST00000262160, 
ENST00000356825, ENST00000402690, 
ENST00000586040, ENST00000591214, 
ENST00000587353, 
Fusion gene scores* DoF score4 X 2 X 4=3212 X 9 X 5=540
# samples 512
** MAII scorelog2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEKHB2 [Title/Abstract] AND SMAD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLEKHB2(131862971)-SMAD2(45423180), # 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
TgeneSMAD2

GO:0007179

transforming growth factor beta receptor signaling pathway

8752209|9389648|9732876|18548003

TgeneSMAD2

GO:0007182

common-partner SMAD protein phosphorylation

16806156

TgeneSMAD2

GO:0007183

SMAD protein complex assembly

9111321

TgeneSMAD2

GO:0045893

positive regulation of transcription, DNA-templated

9311995|9389648|9732876

TgeneSMAD2

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648

TgeneSMAD2

GO:0070723

response to cholesterol

17878231


check buttonFusion gene breakpoints across PLEKHB2 (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 SMAD2 (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-HU-A4H5PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-


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Fusion Gene ORF analysis for PLEKHB2-SMAD2

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
3UTR-5UTRENST00000487980ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
3UTR-5UTRENST00000487980ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
3UTR-5UTRENST00000487980ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
3UTR-5UTRENST00000487980ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
3UTR-5UTRENST00000487980ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
3UTR-intronENST00000487980ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000234115ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000234115ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000234115ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000234115ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000234115ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000403716ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000403716ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000403716ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000403716ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000403716ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000404460ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000404460ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000404460ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000404460ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000404460ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000409158ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000409158ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000409158ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000409158ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000409158ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000438882ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000438882ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000438882ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000438882ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000438882ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000439822ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000439822ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000439822ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000439822ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000439822ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000538982ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000538982ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000538982ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000538982ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-5UTRENST00000538982ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000234115ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000403716ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000404460ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000409158ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000438882ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000439822ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
5UTR-intronENST00000538982ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000303908ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000303908ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000303908ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000303908ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000303908ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409279ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409279ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409279ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409279ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409279ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409612ENST00000262160PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409612ENST00000356825PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409612ENST00000402690PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409612ENST00000586040PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-5UTRENST00000409612ENST00000591214PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-intronENST00000303908ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-intronENST00000409279ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-
intron-intronENST00000409612ENST00000587353PLEKHB2chr2

131862971

+SMAD2chr18

45423180

-

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 PLEKHB2-SMAD2


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 PLEKHB2-SMAD2


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/:131862971/:45423180)
- 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 PLEKHB2-SMAD2


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 PLEKHB2-SMAD2


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 PLEKHB2-SMAD2


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 PLEKHB2-SMAD2


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