Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:EYA3-SUSD6 (FusionGDB2 ID:HG2140TG9766)

Fusion Gene Summary for EYA3-SUSD6

check button Fusion gene summary
Fusion gene informationFusion gene name: EYA3-SUSD6
Fusion gene ID: hg2140tg9766
HgeneTgene
Gene symbol

EYA3

SUSD6

Gene ID

2140

9766

Gene nameEYA transcriptional coactivator and phosphatase 3sushi domain containing 6
Synonyms-DRAGO|KIAA0247
Cytomap('EYA3','EYA3')('KIAA0247','SUSD6')

1p35.3

14q24.1

Type of geneprotein-codingprotein-coding
Descriptioneyes absent homolog 3eyes absent 3sushi domain-containing protein 6drug-activated gene overexpressed protein
Modification date2020031320200313
UniProtAcc

Q99504

.
Ensembl transtripts involved in fusion geneENST00000373863, ENST00000373871, 
ENST00000540618, ENST00000545175, 
ENST00000436342, ENST00000471498, 
ENST00000373864, 
Fusion gene scores* DoF score11 X 10 X 5=5504 X 3 X 4=48
# samples 125
** MAII scorelog2(12/550*10)=-2.1963972128035
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EYA3 [Title/Abstract] AND SUSD6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEYA3(28362055)-KIAA0247(70125230), # samples:4
EYA3(28365350)-SUSD6(70125230), # samples:1
EYA3(28362055)-SUSD6(70125230), # 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
HgeneEYA3

GO:0010212

response to ionizing radiation

19234442

HgeneEYA3

GO:0016576

histone dephosphorylation

19234442|19351884

TgeneSUSD6

GO:0006974

cellular response to DNA damage stimulus

24652652

TgeneSUSD6

GO:0008219

cell death

24652652



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-BH-A18V-01AEYA3chr1

28362055

-KIAA0247chr14

70125230

+
ChimerDB4BRCATCGA-BH-A18V-06AEYA3chr1

28362055

-KIAA0247chr14

70125230

+
ChimerDB4BRCATCGA-BH-A18VEYA3chr1

28362054

-KIAA0247chr14

70125229

+
ChimerDB4BRCATCGA-A7-A3J0-01AEYA3chr1

28365350

-SUSD6chr14

70125230

+
ChimerDB4BRCATCGA-BH-A18V-01AEYA3chr1

28362055

-SUSD6chr14

70125230

+


Top

Fusion Gene ORF analysis for EYA3-SUSD6

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-5UTRENST00000373863ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-5UTRENST00000373863ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-5UTRENST00000373871ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-5UTRENST00000373871ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-5UTRENST00000540618ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-5UTRENST00000540618ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-5UTRENST00000545175ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-5UTRENST00000545175ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-intronENST00000373863ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-intronENST00000373863ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-intronENST00000373871ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-intronENST00000373871ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-intronENST00000540618ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-intronENST00000540618ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5CDS-intronENST00000545175ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5CDS-intronENST00000545175ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5UTR-5UTRENST00000436342ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5UTR-5UTRENST00000436342ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5UTR-5UTRENST00000471498ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5UTR-5UTRENST00000471498ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5UTR-intronENST00000436342ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5UTR-intronENST00000436342ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
5UTR-intronENST00000471498ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
5UTR-intronENST00000471498ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+
intron-5UTRENST00000373864ENST00000342745EYA3chr1

28362055

-KIAA0247chr14

70125230

+
intron-5UTRENST00000373864ENST00000342745EYA3chr1

28362054

-KIAA0247chr14

70125229

+
intron-intronENST00000373864ENST00000553497EYA3chr1

28362055

-KIAA0247chr14

70125230

+
intron-intronENST00000373864ENST00000553497EYA3chr1

28362054

-KIAA0247chr14

70125229

+

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

Top

Fusion Genomic Features for EYA3-SUSD6


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)
EYA3chr128362054-KIAA0247chr1470125229+9.84E-060.9999901
EYA3chr128362054-KIAA0247chr1470125229+9.84E-060.9999901
EYA3chr128362054-KIAA0247chr1470125229+9.84E-060.9999901
EYA3chr128362054-KIAA0247chr1470125229+9.84E-060.9999901


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%

Top

Fusion Protein Features for EYA3-SUSD6


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/:28362055/:70125230)
- 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
EYA3

Q99504

.
FUNCTION: Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1 (PubMed:19234442, PubMed:19351884). Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. Coactivates SIX1, and seems to coactivate SIX2, SIX4 and SIX5. The repression of precursor cell proliferation in myoblasts by SIX1 is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex and seems to be dependent on EYA3 phosphatase activity (By similarity). May be involved in development of the eye. {ECO:0000250|UniProtKB:P97480, ECO:0000269|PubMed:19234442, ECO:0000269|PubMed:19351884}.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


Top

Fusion Gene Sequence for EYA3-SUSD6


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.

Top

Fusion Gene PPI Analysis for EYA3-SUSD6


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


Top

Related Drugs for EYA3-SUSD6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for EYA3-SUSD6


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