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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:AEBP2-GYS2 (FusionGDB2 ID:HG121536TG2998)

Fusion Gene Summary for AEBP2-GYS2

check button Fusion gene summary
Fusion gene informationFusion gene name: AEBP2-GYS2
Fusion gene ID: hg121536tg2998
HgeneTgene
Gene symbol

AEBP2

GYS2

Gene ID

121536

2998

Gene nameAE binding protein 2glycogen synthase 2
Synonyms--
Cytomap('AEBP2')('GYS2')

12p12.3

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein AEBP2AE(adipocyte enhancer)-binding protein 2adipocyte enhancer-binding protein 2glycogen [starch] synthase, liverglycogen synthase 2 (liver)
Modification date2020031320200313
UniProtAcc

Q6ZN18

P54840

Ensembl transtripts involved in fusion geneENST00000266508, ENST00000360995, 
ENST00000398864, ENST00000541908, 
Fusion gene scores* DoF score10 X 9 X 8=7208 X 7 X 5=280
# samples 128
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AEBP2 [Title/Abstract] AND GYS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAEBP2(19646920)-GYS2(21699404), # samples:3
Anticipated loss of major functional domain due to fusion event.AEBP2-GYS2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
AEBP2-GYS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AEBP2-GYS2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
AEBP2-GYS2 seems lost the major protein functional domain in Tgene 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
TgeneGYS2

GO:0005978

glycogen biosynthetic process

1731614



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
ChimerDB4HNSCTCGA-F7-A50G-01AAEBP2chr12

19646920

-GYS2chr12

21699404

-
ChimerDB4HNSCTCGA-F7-A50G-01AAEBP2chr12

19646920

+GYS2chr12

21699404

-
ChimerDB4HNSCTCGA-F7-A50GAEBP2chr12

19646920

+GYS2chr12

21699404

-


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Fusion Gene ORF analysis for AEBP2-GYS2

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-shiftENST00000266508ENST00000261195AEBP2chr12

19646920

+GYS2chr12

21699404

-
Frame-shiftENST00000360995ENST00000261195AEBP2chr12

19646920

+GYS2chr12

21699404

-
Frame-shiftENST00000398864ENST00000261195AEBP2chr12

19646920

+GYS2chr12

21699404

-
Frame-shiftENST00000541908ENST00000261195AEBP2chr12

19646920

+GYS2chr12

21699404

-

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 AEBP2-GYS2


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)


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Fusion Protein Features for AEBP2-GYS2


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/:19646920/:21699404)
- 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
AEBP2

Q6ZN18

GYS2

P54840

FUNCTION: Acts as an accessory subunit for the core Polycomb repressive complex 2 (PRC2), which mediates histone H3K27 (H3K27me3) trimethylation on chromatin leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:31959557, PubMed:29499137). Plays a role in nucleosome localization of the PRC2 complex (PubMed:29499137). {ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.FUNCTION: Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

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 AEBP2-GYS2


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 AEBP2-GYS2


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 AEBP2-GYS2


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 AEBP2-GYS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1855861Glycogen Storage Disease 0, Liver2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0017919Glycogen Storage Disease1GENOMICS_ENGLAND
TgeneC2239176Liver carcinoma1CTD_human