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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:SETMAR-EYS (FusionGDB2 ID:80396)

Fusion Gene Summary for SETMAR-EYS

check button Fusion gene summary
Fusion gene informationFusion gene name: SETMAR-EYS
Fusion gene ID: 80396
HgeneTgene
Gene symbol

SETMAR

EYS

Gene ID

6419

346007

Gene nameSET domain and mariner transposase fusion geneeyes shut homolog
SynonymsMETNASE|Mar1C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1
Cytomap

3p26.1

6q12

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SETMARSET domain and mariner transposase fusion gene-containing proteinSET domain and mariner transposase fusion proteinprotein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog
Modification date2020031320200313
UniProtAcc.

Q5T1H1

Ensembl transtripts involved in fusion geneENST00000358065, ENST00000430981, 
ENST00000425863, ENST00000462115, 
ENST00000503581, ENST00000370621, 
ENST00000370616, ENST00000393380, 
ENST00000342421, ENST00000370618, 
ENST00000486069, 
Fusion gene scores* DoF score2 X 1 X 2=436 X 24 X 15=12960
# samples 238
** MAII scorelog2(2/4*10)=2.32192809488736log2(38/12960*10)=-5.09192248944104
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SETMAR [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSETMAR(4345210)-EYS(66115260), # samples:2
Anticipated loss of major functional domain due to fusion event.SETMAR-EYS seems lost the major protein functional domain in Hgene partner, which is a epigenetic 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
HgeneSETMAR

GO:0000729

DNA double-strand break processing

21491884

HgeneSETMAR

GO:0000737

DNA catabolic process, endonucleolytic

20521842|21491884

HgeneSETMAR

GO:0006303

double-strand break repair via nonhomologous end joining

16332963

HgeneSETMAR

GO:0010452

histone H3-K36 methylation

16332963

HgeneSETMAR

GO:0051568

histone H3-K4 methylation

16332963

HgeneSETMAR

GO:2000373

positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity

18790802

HgeneSETMAR

GO:2001034

positive regulation of double-strand break repair via nonhomologous end joining

20620605|21491884

HgeneSETMAR

GO:2001251

negative regulation of chromosome organization

20620605


check buttonFusion gene breakpoints across SETMAR (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 EYS (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
ChimerDB4LUSCTCGA-98-A53I-01ASETMARchr3

4345210

+EYSchr6

66115260

-
ChimerDB4LUSCTCGA-98-A53I-01ASETMARchr3

4345210

-EYSchr6

66115260

-


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Fusion Gene ORF analysis for SETMAR-EYS

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
Frame-shiftENST00000358065ENST00000503581SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000358065ENST00000370621SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000358065ENST00000370616SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000358065ENST00000393380SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000358065ENST00000342421SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000358065ENST00000370618SETMARchr3

4345210

+EYSchr6

66115260

-
5CDS-intronENST00000358065ENST00000486069SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000503581SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000370621SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000370616SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000393380SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000342421SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000430981ENST00000370618SETMARchr3

4345210

+EYSchr6

66115260

-
5CDS-intronENST00000430981ENST00000486069SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000503581SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000370621SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000370616SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000393380SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000342421SETMARchr3

4345210

+EYSchr6

66115260

-
Frame-shiftENST00000425863ENST00000370618SETMARchr3

4345210

+EYSchr6

66115260

-
5CDS-intronENST00000425863ENST00000486069SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000503581SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000370621SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000370616SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000393380SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000342421SETMARchr3

4345210

+EYSchr6

66115260

-
intron-3CDSENST00000462115ENST00000370618SETMARchr3

4345210

+EYSchr6

66115260

-
intron-intronENST00000462115ENST00000486069SETMARchr3

4345210

+EYSchr6

66115260

-

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 SETMAR-EYS


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 SETMAR-EYS


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.EYS

Q5T1H1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71, ECO:0000269|PubMed:18836446}.

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 SETMAR-EYS


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 SETMAR-EYS


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 SETMAR-EYS


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 SETMAR-EYS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEYSC1864446Retinitis Pigmentosa 255CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneEYSC0035334Retinitis Pigmentosa1CTD_human;GENOMICS_ENGLAND