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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:ERG-SON (FusionGDB2 ID:27377)

Fusion Gene Summary for ERG-SON

check button Fusion gene summary
Fusion gene informationFusion gene name: ERG-SON
Fusion gene ID: 27377
HgeneTgene
Gene symbol

ERG

SON

Gene ID

2078

6651

Gene nameETS transcription factor ERGSON DNA and RNA binding protein
Synonymserg-3|p55BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS
Cytomap

21q22.2

21q22.11

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional regulator ERGERG, ETS transcription factorFUS/ERG fusion proteinTMPRSS2/ERG fusionerythroblast transformation-specific transcription factor ERG variant 10ets-relatedtranscriptional regulator ERG (transforming protein ERG)v-ets avianprotein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinSON DNA binding proteinnegative regulatory element-binding protein
Modification date2020032020200313
UniProtAcc.

SHH

Ensembl transtripts involved in fusion geneENST00000398910, ENST00000398911, 
ENST00000398919, ENST00000417133, 
ENST00000442448, ENST00000398897, 
ENST00000485493, ENST00000288319, 
ENST00000398905, ENST00000398907, 
ENST00000429727, ENST00000453032, 
ENST00000470533, ENST00000290239, 
ENST00000300278, ENST00000356577, 
ENST00000381679, ENST00000381692, 
Fusion gene scores* DoF score19 X 16 X 5=152016 X 15 X 5=1200
# samples 3116
** MAII scorelog2(31/1520*10)=-2.29373120305671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERG [Title/Abstract] AND SON [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERG(39947586)-SON(34918519), # samples:3
Anticipated loss of major functional domain due to fusion event.ERG-SON seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ERG-SON seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ERG-SON seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ERG-SON seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ERG-SON seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgeneERG

GO:0045944

positive regulation of transcription by RNA polymerase II

18195090|23913826

TgeneSON

GO:0006397

mRNA processing

21504830

TgeneSON

GO:0043066

negative regulation of apoptotic process

10509013

TgeneSON

GO:0048024

regulation of mRNA splicing, via spliceosome

21504830


check buttonFusion gene breakpoints across ERG (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 SON (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
ChimerDB4PRADTCGA-HC-7230-01AERGchr21

39947586

-SONchr21

34918519

+
ChimerDB4PRADTCGA-HC-7230ERGchr21

39947586

-SONchr21

34918519

+


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Fusion Gene ORF analysis for ERG-SON

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
5CDS-intronENST00000398910ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5CDS-intronENST00000398911ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5CDS-intronENST00000398919ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5CDS-intronENST00000417133ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5CDS-intronENST00000442448ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000398897ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000398897ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000398897ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000398897ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000398897ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000485493ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000485493ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000485493ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000485493ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
5UTR-3CDSENST00000485493ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
5UTR-intronENST00000398897ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
5UTR-intronENST00000485493ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398910ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398910ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398910ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398910ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398910ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398911ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398911ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398911ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398911ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398911ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398919ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398919ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398919ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398919ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000398919ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000417133ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000417133ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000417133ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000417133ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000417133ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000442448ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000442448ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000442448ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000442448ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
Frame-shiftENST00000442448ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000288319ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000288319ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000288319ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000288319ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000288319ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398905ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398905ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398905ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398905ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398905ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398907ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398907ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398907ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398907ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000398907ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000429727ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000429727ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000429727ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000429727ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000429727ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000453032ENST00000290239ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000453032ENST00000300278ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000453032ENST00000356577ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000453032ENST00000381679ERGchr21

39947586

-SONchr21

34918519

+
intron-3CDSENST00000453032ENST00000381692ERGchr21

39947586

-SONchr21

34918519

+
intron-intronENST00000288319ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
intron-intronENST00000398905ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
intron-intronENST00000398907ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
intron-intronENST00000429727ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+
intron-intronENST00000453032ENST00000470533ERGchr21

39947586

-SONchr21

34918519

+

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 ERG-SON


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)
ERGchr2139947585-SONchr2134918518+2.57E-101
ERGchr2139947585-SONchr2134918518+2.57E-101
ERGchr2139947585-SONchr2134918518+2.57E-101
ERGchr2139947585-SONchr2134918518+2.57E-101

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 ERG-SON


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/:39947586/:34918519)
- 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
.SON

SHH

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}.462

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 ERG-SON


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 ERG-SON


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 ERG-SON


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 ERG-SON


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