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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:EZH2-ACTR3B (FusionGDB2 ID:28099)

Fusion Gene Summary for EZH2-ACTR3B

check button Fusion gene summary
Fusion gene informationFusion gene name: EZH2-ACTR3B
Fusion gene ID: 28099
HgeneTgene
Gene symbol

EZH2

ACTR3B

Gene ID

2146

57180

Gene nameenhancer of zeste 2 polycomb repressive complex 2 subunitactin related protein 3B
SynonymsENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2ARP11|ARP3BETA
Cytomap

7q36.1

7q36.1-q36.2

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6actin-related protein 3BARP3 actin related protein 3 homolog BARP3-betaactin-like protein 3Bactin-related protein 3-betaactin-related protein ARP4actin-related protein Arp11
Modification date2020032920200313
UniProtAcc

Q15910

Q9P1U1

Ensembl transtripts involved in fusion geneENST00000320356, ENST00000350995, 
ENST00000460911, ENST00000483967, 
ENST00000536783, ENST00000541220, 
ENST00000476773, ENST00000478654, 
ENST00000256001, ENST00000377776, 
ENST00000488782, ENST00000397282, 
ENST00000537264, 
Fusion gene scores* DoF score9 X 9 X 5=4055 X 7 X 6=210
# samples 98
** MAII scorelog2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EZH2 [Title/Abstract] AND ACTR3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEZH2(148581255)-ACTR3B(152480271), # samples:1
EZH2(148581255)-ACTR3B(152498705), # 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
HgeneEZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

HgeneEZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

HgeneEZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

HgeneEZH2

GO:0043547

positive regulation of GTPase activity

20154697

HgeneEZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

HgeneEZH2

GO:0070734

histone H3-K27 methylation

24474760

HgeneEZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697


check buttonFusion gene breakpoints across EZH2 (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 ACTR3B (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
ChimerDB4OVTCGA-61-1998EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
ChimerDB4OVTCGA-61-1998EZH2chr7

148581255

-ACTR3Bchr7

152498705

+


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Fusion Gene ORF analysis for EZH2-ACTR3B

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-3CDSENST00000320356ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000320356ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000320356ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000320356ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000350995ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000350995ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000350995ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000350995ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000460911ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000460911ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000460911ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000460911ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000483967ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000483967ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000483967ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000483967ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000536783ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000536783ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000536783ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000536783ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000541220ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000541220ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3CDSENST00000541220ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-3CDSENST00000541220ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000320356ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000350995ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000460911ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000483967ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000536783ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-3UTRENST00000541220ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000320356ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000320356ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000320356ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000350995ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000350995ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000350995ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000460911ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000460911ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000460911ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000483967ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000483967ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000483967ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000536783ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000536783ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000536783ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000541220ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-5UTRENST00000541220ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-5UTRENST00000541220ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
5UTR-intronENST00000320356ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000320356ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000350995ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000350995ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000460911ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000460911ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000483967ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000483967ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000536783ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000536783ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000541220ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
5UTR-intronENST00000541220ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-3CDSENST00000476773ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-3CDSENST00000476773ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-3CDSENST00000476773ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-3CDSENST00000476773ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-3CDSENST00000478654ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-3CDSENST00000478654ENST00000256001EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-3CDSENST00000478654ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-3CDSENST00000478654ENST00000377776EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-3UTRENST00000476773ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-3UTRENST00000478654ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-5UTRENST00000476773ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-5UTRENST00000476773ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-5UTRENST00000476773ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-5UTRENST00000478654ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-5UTRENST00000478654ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-5UTRENST00000478654ENST00000537264EZH2chr7

148581255

-ACTR3Bchr7

152498705

+
intron-intronENST00000476773ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-intronENST00000476773ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-intronENST00000478654ENST00000397282EZH2chr7

148581255

-ACTR3Bchr7

152480271

+
intron-intronENST00000478654ENST00000488782EZH2chr7

148581255

-ACTR3Bchr7

152480271

+

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 EZH2-ACTR3B


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)
EZH2chr7148581255-ACTR3Bchr7152480271+3.28E-050.9999671
EZH2chr7148581255-ACTR3Bchr7152498705+3.37E-091
EZH2chr7148581255-ACTR3Bchr7152480271+3.28E-050.9999671
EZH2chr7148581255-ACTR3Bchr7152498705+3.37E-091

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 EZH2-ACTR3B


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/:148581255/:152480271)
- 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
EZH2

Q15910

ACTR3B

Q9P1U1

FUNCTION: Polycomb group (PcG) protein. Catalytic subunit of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. Able to mono-, di- and trimethylate 'Lys-27' of histone H3 to form H3K27me1, H3K27me2 and H3K27me3, respectively. Displays a preference for substrates with less methylation, loses activity when progressively more methyl groups are incorporated into H3K27, H3K27me0 > H3K27me1 > H3K27me2 (PubMed:22323599, PubMed:30923826). Compared to EZH1-containing complexes, it is more abundant in embryonic stem cells and plays a major role in forming H3K27me3, which is required for embryonic stem cell identity and proper differentiation. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1, CDKN2A and retinoic acid target genes. EZH2 can also methylate non-histone proteins such as the transcription factor GATA4 and the nuclear receptor RORA. Regulates the circadian clock via histone methylation at the promoter of the circadian genes. Essential for the CRY1/2-mediated repression of the transcriptional activation of PER1/2 by the CLOCK-ARNTL/BMAL1 heterodimer; involved in the di and trimethylation of 'Lys-27' of histone H3 on PER1/2 promoters which is necessary for the CRY1/2 proteins to inhibit transcription. {ECO:0000269|PubMed:14532106, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:16179254, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:16618801, ECO:0000269|PubMed:16717091, ECO:0000269|PubMed:16936726, ECO:0000269|PubMed:17210787, ECO:0000269|PubMed:17344414, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:19026781, ECO:0000269|PubMed:20935635, ECO:0000269|PubMed:22323599, ECO:0000269|PubMed:23063525, ECO:0000269|PubMed:24474760, ECO:0000269|PubMed:30923826}.FUNCTION: Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors. {ECO:0000269|PubMed:14651955}.

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 EZH2-ACTR3B


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 EZH2-ACTR3B


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 EZH2-ACTR3B


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 EZH2-ACTR3B


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