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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:GALNT2-EYS (FusionGDB2 ID:32279)

Fusion Gene Summary for GALNT2-EYS

check button Fusion gene summary
Fusion gene informationFusion gene name: GALNT2-EYS
Fusion gene ID: 32279
HgeneTgene
Gene symbol

GALNT2

EYS

Gene ID

2590

346007

Gene namepolypeptide N-acetylgalactosaminyltransferase 2eyes shut homolog
SynonymsGalNAc-T2C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1
Cytomap

1q42.13

6q12

Type of geneprotein-codingprotein-coding
Descriptionpolypeptide N-acetylgalactosaminyltransferase 2UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)polypeptide GalNAc transferase 2pp-GaNTase 2protein 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 geneENST00000366672, ENST00000541865, 
ENST00000485438, ENST00000543760, 
ENST00000342421, ENST00000370618, 
ENST00000393380, ENST00000486069, 
ENST00000370616, ENST00000370621, 
ENST00000503581, 
Fusion gene scores* DoF score18 X 14 X 9=226836 X 24 X 15=12960
# samples 2138
** MAII scorelog2(21/2268*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(38/12960*10)=-5.09192248944104
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GALNT2 [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGALNT2(230203153)-EYS(64436573), # samples:3
Anticipated loss of major functional domain due to fusion event.GALNT2-EYS seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene 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
HgeneGALNT2

GO:0002378

immunoglobulin biosynthetic process

12438318

HgeneGALNT2

GO:0006493

protein O-linked glycosylation

16434399|19460755

HgeneGALNT2

GO:0016266

O-glycan processing

18562306

HgeneGALNT2

GO:0018242

protein O-linked glycosylation via serine

9295285|12438318

HgeneGALNT2

GO:0018243

protein O-linked glycosylation via threonine

9295285|12438318|18562306


check buttonFusion gene breakpoints across GALNT2 (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-51-6867-01AGALNT2chr1

230203153

+EYSchr6

64436573

-
ChimerDB4LUSCTCGA-51-6867GALNT2chr1

230203153

+EYSchr6

64436573

-


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Fusion Gene ORF analysis for GALNT2-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
5CDS-intronENST00000366672ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
5CDS-intronENST00000366672ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-3CDSENST00000541865ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
5UTR-intronENST00000541865ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
Frame-shiftENST00000366672ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000485438ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000543760ENST00000370616GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000543760ENST00000370621GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-3CDSENST00000543760ENST00000503581GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000485438ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000342421GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000370618GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000393380GALNT2chr1

230203153

+EYSchr6

64436573

-
intron-intronENST00000543760ENST00000486069GALNT2chr1

230203153

+EYSchr6

64436573

-

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 GALNT2-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 GALNT2-EYS


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/:230203153/:64436573)
- 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
.EYS

Q5T1H1

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: 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 GALNT2-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 GALNT2-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 GALNT2-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 GALNT2-EYS


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