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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:PPP6R3-MGAM (FusionGDB2 ID:68308)

Fusion Gene Summary for PPP6R3-MGAM

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP6R3-MGAM
Fusion gene ID: 68308
HgeneTgene
Gene symbol

PPP6R3

MGAM

Gene ID

55291

8972

Gene nameprotein phosphatase 6 regulatory subunit 3maltase-glucoamylase
SynonymsC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3MG|MGA
Cytomap

11q13.2

7q34

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPLmaltase-glucoamylase, intestinalbrush border hydrolasemaltase-glucoamylase (alpha-glucosidase)
Modification date2020031320200313
UniProtAcc.

Q2M2H8

Ensembl transtripts involved in fusion geneENST00000530427, ENST00000265636, 
ENST00000265637, ENST00000393799, 
ENST00000393800, ENST00000393801, 
ENST00000524845, ENST00000524904, 
ENST00000527403, ENST00000529710, 
ENST00000534534, 		ENST00000475668, 
ENST00000549489, ENST00000497554, 
Fusion gene scores* DoF score34 X 21 X 15=107102 X 1 X 2=4
# samples 432
** MAII scorelog2(43/10710*10)=-4.63847801004816
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: PPP6R3 [Title/Abstract] AND MGAM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP6R3(68287119)-MGAM(141705329), # samples:1
PPP6R3(68312492)-MGAM(141705329), # samples:1
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
HgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191


check buttonFusion gene breakpoints across PPP6R3 (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 MGAM (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-O2-A5IB-01APPP6R3chr11

68287119

+MGAMchr7

141705329

+
ChimerDB4LUSCTCGA-O2-A5IB-01APPP6R3chr11

68312492

-MGAMchr7

141705329

+


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Fusion Gene ORF analysis for PPP6R3-MGAM

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
3UTR-5UTRENST00000530427ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
3UTR-5UTRENST00000530427ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
3UTR-intronENST00000530427ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5CDS-5UTRENST00000265636ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000265636ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000265637ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000265637ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393799ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393799ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393800ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393800ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393801ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000393801ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000524845ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000524845ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000524904ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000524904ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000527403ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000527403ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000529710ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000529710ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000534534ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-5UTRENST00000534534ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000265636ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000265637ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000393799ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000393800ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000393801ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000524845ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000524904ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000527403ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000529710ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5CDS-intronENST00000534534ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+
5UTR-5UTRENST00000265636ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000265636ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393799ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393799ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393800ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393800ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393801ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000393801ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000524845ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000524845ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000524904ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000524904ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000527403ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000527403ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000529710ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000529710ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000534534ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-5UTRENST00000534534ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000265636ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000393799ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000393800ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000393801ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000524845ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000524904ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000527403ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000529710ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
5UTR-intronENST00000534534ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
intron-5UTRENST00000265637ENST00000475668PPP6R3chr11

68287119

+MGAMchr7

141705329

+
intron-5UTRENST00000265637ENST00000549489PPP6R3chr11

68287119

+MGAMchr7

141705329

+
intron-5UTRENST00000530427ENST00000475668PPP6R3chr11

68312492

-MGAMchr7

141705329

+
intron-5UTRENST00000530427ENST00000549489PPP6R3chr11

68312492

-MGAMchr7

141705329

+
intron-intronENST00000265637ENST00000497554PPP6R3chr11

68287119

+MGAMchr7

141705329

+
intron-intronENST00000530427ENST00000497554PPP6R3chr11

68312492

-MGAMchr7

141705329

+

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 PPP6R3-MGAM


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)
PPP6R3chr1168287119+MGAMchr7141705328+2.54E-081
PPP6R3chr1168287119+MGAMchr7141705328+2.54E-081

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 PPP6R3-MGAM


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/:68287119/:141705329)
- 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
.MGAM

Q2M2H8

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 PPP6R3-MGAM


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 PPP6R3-MGAM


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 PPP6R3-MGAM


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 PPP6R3-MGAM


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