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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:YWHAE-GCGR (FusionGDB2 ID:100134)

Fusion Gene Summary for YWHAE-GCGR

check button Fusion gene summary
Fusion gene informationFusion gene name: YWHAE-GCGR
Fusion gene ID: 100134
HgeneTgene
Gene symbol

YWHAE

GCGR

Gene ID

7531

2642

Gene nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilonglucagon receptor
Synonyms14-3-3E|HEL2|KCIP-1|MDCR|MDSGGR|GL-R
Cytomap

17p13.3

17q25.3

Type of geneprotein-codingprotein-coding
Description14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine glucagon receptor
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264335, ENST00000573026, 
ENST00000575977, ENST00000498643, 
ENST00000571732, 		ENST00000400723, 
ENST00000570996, 
Fusion gene scores* DoF score28 X 9 X 15=37802 X 4 X 2=16
# samples 423
** MAII scorelog2(42/3780*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/16*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: YWHAE [Title/Abstract] AND GCGR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointYWHAE(1303341)-GCGR(79766718), # samples:3
Anticipated loss of major functional domain due to fusion event.YWHAE-GCGR seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
YWHAE-GCGR seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
YWHAE-GCGR seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
YWHAE-GCGR seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneYWHAE

GO:0000165

MAPK cascade

12917326

HgeneYWHAE

GO:0034605

cellular response to heat

12917326

HgeneYWHAE

GO:0046827

positive regulation of protein export from nucleus

12917326

HgeneYWHAE

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

HgeneYWHAE

GO:0060306

regulation of membrane repolarization

11953308

HgeneYWHAE

GO:1901016

regulation of potassium ion transmembrane transporter activity

11953308

HgeneYWHAE

GO:1901020

negative regulation of calcium ion transmembrane transporter activity

18029012

HgeneYWHAE

GO:1902309

negative regulation of peptidyl-serine dephosphorylation

11953308

HgeneYWHAE

GO:1905913

negative regulation of calcium ion export across plasma membrane

18029012

TgeneGCGR

GO:0007189

adenylate cyclase-activating G protein-coupled receptor signaling pathway

28514451

TgeneGCGR

GO:0071377

cellular response to glucagon stimulus

9287038


check buttonFusion gene breakpoints across YWHAE (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 GCGR (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
ChimerDB4UCSTCGA-N9-A4PZ-01AYWHAEchr17

1303341

-GCGRchr17

79766718

+
ChimerDB4UCSTCGA-N9-A4PZYWHAEchr17

1303340

-GCGRchr17

79766717

+
ChimerDB4UCSTCGA-N9-A4PZYWHAEchr17

1303341

-GCGRchr17

79766718

+
ChimerDB4UCSTCGA-N9-A4PZYWHAEchr17

1303341

-GCGRchr17

79768701

+


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Fusion Gene ORF analysis for YWHAE-GCGR

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-5UTRENST00000264335ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000264335ENST00000400723YWHAEchr17

1303340

-GCGRchr17

79766717

+
5CDS-5UTRENST00000264335ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000264335ENST00000570996YWHAEchr17

1303340

-GCGRchr17

79766717

+
5CDS-5UTRENST00000573026ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000573026ENST00000400723YWHAEchr17

1303340

-GCGRchr17

79766717

+
5CDS-5UTRENST00000573026ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000573026ENST00000570996YWHAEchr17

1303340

-GCGRchr17

79766717

+
5CDS-5UTRENST00000575977ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000575977ENST00000400723YWHAEchr17

1303340

-GCGRchr17

79766717

+
5CDS-5UTRENST00000575977ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79766718

+
5CDS-5UTRENST00000575977ENST00000570996YWHAEchr17

1303340

-GCGRchr17

79766717

+
5UTR-3CDSENST00000498643ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79768701

+
5UTR-3CDSENST00000498643ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79768701

+
5UTR-3CDSENST00000571732ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79768701

+
5UTR-3CDSENST00000571732ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79768701

+
5UTR-5UTRENST00000498643ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79766718

+
5UTR-5UTRENST00000498643ENST00000400723YWHAEchr17

1303340

-GCGRchr17

79766717

+
5UTR-5UTRENST00000498643ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79766718

+
5UTR-5UTRENST00000498643ENST00000570996YWHAEchr17

1303340

-GCGRchr17

79766717

+
5UTR-5UTRENST00000571732ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79766718

+
5UTR-5UTRENST00000571732ENST00000400723YWHAEchr17

1303340

-GCGRchr17

79766717

+
5UTR-5UTRENST00000571732ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79766718

+
5UTR-5UTRENST00000571732ENST00000570996YWHAEchr17

1303340

-GCGRchr17

79766717

+
Frame-shiftENST00000264335ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79768701

+
Frame-shiftENST00000264335ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79768701

+
Frame-shiftENST00000573026ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79768701

+
Frame-shiftENST00000573026ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79768701

+
Frame-shiftENST00000575977ENST00000400723YWHAEchr17

1303341

-GCGRchr17

79768701

+
Frame-shiftENST00000575977ENST00000570996YWHAEchr17

1303341

-GCGRchr17

79768701

+

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 YWHAE-GCGR


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)
YWHAEchr171303340-GCGRchr1779766717+1.29E-101
YWHAEchr171303340-GCGRchr1779766717+1.29E-101
YWHAEchr171303340-GCGRchr1779768700+8.01E-101
YWHAEchr171303340-GCGRchr1779766717+1.29E-101
YWHAEchr171303340-GCGRchr1779766717+1.29E-101
YWHAEchr171303340-GCGRchr1779768700+8.01E-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 YWHAE-GCGR


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/:1303341/:79766718)
- 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
..
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: 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


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Fusion Gene Sequence for YWHAE-GCGR


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 YWHAE-GCGR


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 YWHAE-GCGR


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 YWHAE-GCGR


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