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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:AGL-UBE4B (FusionGDB2 ID:HG178TG10277)

Fusion Gene Summary for AGL-UBE4B

check button Fusion gene summary
Fusion gene informationFusion gene name: AGL-UBE4B
Fusion gene ID: hg178tg10277
HgeneTgene
Gene symbol

AGL

UBE4B

Gene ID

178

10277

Gene nameamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseubiquitination factor E4B
SynonymsGDEE4|HDNB1|UBOX3|UFD2|UFD2A
Cytomap('AGL')('UBE4B')

1p21.2

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionglycogen debranching enzymeamylo-1, 6-glucosidase, 4-alpha-glucanotransferaseamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferaseprovidedglycogen debrancherglycogen debranching proteinubiquitin conjugation factor E4 BRING-type E3 ubiquitin transferase E4 BUFD2A-III/UBE4B-III splice isoformhomologous to yeast UFD2homozygously deleted in neuroblastoma-1ubiquitin-fusion degradation protein 2ubiquitination factor E4B (UFD2 homolog, y
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000294724, ENST00000361302, 
ENST00000361522, ENST00000361915, 
ENST00000370161, ENST00000370163, 
ENST00000370165, ENST00000477753, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 14 X 8=1008
# samples 217
** MAII scorelog2(2/8*10)=1.32192809488736log2(17/1008*10)=-2.56788898736222
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGL [Title/Abstract] AND UBE4B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGL(100342153)-UBE4B(10093280), # samples:2
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
TgeneUBE4B

GO:0008626

granzyme-mediated apoptotic signaling pathway

11802788

TgeneUBE4B

GO:0009411

response to UV

11802788

TgeneUBE4B

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

23509263



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-E9-A1N9-01AAGLchr1

100342153

+UBE4Bchr1

10093280

+


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Fusion Gene ORF analysis for AGL-UBE4B

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-5UTRENST00000294724ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000294724ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361302ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361302ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361522ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361522ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361915ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000361915ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370161ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370161ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370163ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370163ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370165ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000370165ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000477753ENST00000253251AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-5UTRENST00000477753ENST00000377157AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000294724ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000294724ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000294724ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361302ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361302ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361302ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361522ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361522ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361522ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361915ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361915ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000361915ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370161ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370161ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370161ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370163ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370163ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370163ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370165ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370165ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000370165ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000477753ENST00000343090AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000477753ENST00000377153AGLchr1

100342153

+UBE4Bchr1

10093280

+
5CDS-intronENST00000477753ENST00000475795AGLchr1

100342153

+UBE4Bchr1

10093280

+

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 AGL-UBE4B


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 AGL-UBE4B


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/:100342153/:10093280)
- 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 AGL-UBE4B


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 AGL-UBE4B


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 AGL-UBE4B


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 AGL-UBE4B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGLC0017922Glycogen Storage Disease Type III8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAGLC2936915Amylo-1,6-glucosidase deficiency2ORPHANET
HgeneAGLC0017919Glycogen Storage Disease1GENOMICS_ENGLAND
HgeneAGLC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAGLC0369183Erythrocyte Mean Corpuscular Hemoglobin Test1GENOMICS_ENGLAND
HgeneAGLC1261502Finding of Mean Corpuscular Hemoglobin1GENOMICS_ENGLAND
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0043020Wallerian Degeneration1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0525041Neurobehavioral Manifestations1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human