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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:POGZ-GBA (FusionGDB2 ID:66852)

Fusion Gene Summary for POGZ-GBA

check button Fusion gene summary
Fusion gene informationFusion gene name: POGZ-GBA
Fusion gene ID: 66852
HgeneTgene
Gene symbol

POGZ

GBA

Gene ID

23126

2629

Gene namepogo transposable element derived with ZNF domainglucosylceramidase beta
SynonymsMRD37|WHSUS|ZNF280E|ZNF635|ZNF635mGBA1|GCB|GLUC
Cytomap

1q21.3

1q22

Type of geneprotein-codingprotein-coding
Descriptionpogo transposable element with ZNF domainputative protein product of Nbla00003zinc finger protein 280Ezinc finger protein 635lysosomal acid glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseSGTaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidasecholesterol glucosyltransferasecholesteryl-beta-glucosidaseglucosidase, beta, acidglucosylceramidase-
Modification date2020032720200329
UniProtAcc.

Q9H227

Ensembl transtripts involved in fusion geneENST00000271715, ENST00000361398, 
ENST00000368863, ENST00000392723, 
ENST00000409503, ENST00000491586, 
ENST00000531094, ENST00000540984, 
ENST00000327247, ENST00000368373, 
ENST00000427500, ENST00000493842, 
ENST00000536770, ENST00000428024, 
Fusion gene scores* DoF score15 X 13 X 8=15606 X 4 X 6=144
# samples 166
** MAII scorelog2(16/1560*10)=-3.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POGZ [Title/Abstract] AND GBA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPOGZ(151395873)-GBA(155210971), # samples:3
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
TgeneGBA

GO:0006680

glucosylceramide catabolic process

9201993|16293621|24211208

TgeneGBA

GO:0008203

cholesterol metabolic process

24211208|26724485

TgeneGBA

GO:0030259

lipid glycosylation

24211208|26724485

TgeneGBA

GO:0031333

negative regulation of protein complex assembly

26392287

TgeneGBA

GO:0032715

negative regulation of interleukin-6 production

19279008

TgeneGBA

GO:0043243

positive regulation of protein complex disassembly

26392287


check buttonFusion gene breakpoints across POGZ (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 GBA (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
ChimerDB4BRCATCGA-A2-A04U-01APOGZchr1

151395873

-GBAchr1

155210971

-


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Fusion Gene ORF analysis for POGZ-GBA

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-5UTRENST00000271715ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000271715ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000361398ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000368863ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000392723ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000409503ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000491586ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-5UTRENST00000531094ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000271715ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000361398ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000368863ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000392723ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000409503ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000491586ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5CDS-intronENST00000531094ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000327247POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000368373POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000427500POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000493842POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-5UTRENST00000540984ENST00000536770POGZchr1

151395873

-GBAchr1

155210971

-
5UTR-intronENST00000540984ENST00000428024POGZchr1

151395873

-GBAchr1

155210971

-

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 POGZ-GBA


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 POGZ-GBA


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/:151395873/:155210971)
- 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
.GBA

Q9H227

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: Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides (PubMed:11389701, PubMed:11784319, PubMed:20728381, PubMed:26724485, PubMed:17595169). Has a significant glucosylceramidase activity in vitro (PubMed:26724485, PubMed:17595169). However, that activity is relatively low and its significance in vivo is not clear (PubMed:26724485, PubMed:17595169, PubMed:20728381). Also able to hydrolyze galactosylceramide/GalCer, glucosylsphingosine/GlcSph and galactosylsphingosine/GalSph (PubMed:17595169). However, the in vivo relevance of these activities is unclear (PubMed:17595169). It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics (PubMed:11784319). Could also play a role in the catabolism of cytosolic sialyl free N-glycans (PubMed:26193330). {ECO:0000269|PubMed:11389701, ECO:0000269|PubMed:11784319, ECO:0000269|PubMed:17595169, ECO:0000269|PubMed:20728381, ECO:0000269|PubMed:26193330, ECO:0000269|PubMed:26724485}.

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 POGZ-GBA


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 POGZ-GBA


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 POGZ-GBA


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 POGZ-GBA


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