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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28382

FusionGeneSummary for PPP1R3B_GATA2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R3B_GATA2
Fusion gene ID: 28382
HgeneTgene
Gene symbol

PPP1R3B

GATA2

Gene ID

79660

2624

Gene nameprotein phosphatase 1 regulatory subunit 3BGATA binding protein 2
SynonymsGL|PPP1R4|PTGDCML|IMD21|MONOMAC|NFE1B
Cytomap

8p23.1

3q21.3

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 3BPP1 subunit R4hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GLhepatic glycogen-targeting subunit, G(L)protein phosphatase 1 regulatory subunit 4protein phosphatase 1, regulatory (inhibiendothelial transcription factor GATA-2
Modification date2018051920180523
UniProtAcc

Q86XI6

P23769

Ensembl transtripts involved in fusion geneENST00000310455, ENST00000519699, 
ENST00000341105, ENST00000489987, 
ENST00000430265, ENST00000487848, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: PPP1R3B [Title/Abstract] AND GATA2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgenePPP1R3B

GO:0005981

regulation of glycogen catabolic process

22225877

TgeneGATA2

GO:0006351

transcription, DNA-templated

16153155

TgeneGATA2

GO:0035854

eosinophil fate commitment

12045236

TgeneGATA2

GO:0045746

negative regulation of Notch signaling pathway

16672344

TgeneGATA2

GO:0045766

positive regulation of angiogenesis

19242469

TgeneGATA2

GO:0045944

positive regulation of transcription by RNA polymerase II

15016828|20206639|21788589

TgeneGATA2

GO:0061614

pri-miRNA transcription by RNA polymerase II

27780851

TgeneGATA2

GO:2000178

negative regulation of neural precursor cell proliferation

16672344


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AI344454PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-intronENST00000310455ENST00000341105PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000310455ENST00000489987PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000310455ENST00000430265PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000310455ENST00000487848PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000519699ENST00000341105PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000519699ENST00000489987PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000519699ENST00000430265PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+
intron-intronENST00000519699ENST00000487848PPP1R3Bchr8

8993854

+GATA2chr3

128204254

+

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FusionProtFeatures for PPP1R3B_GATA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP1R3B

Q86XI6

GATA2

P23769

Acts as a glycogen-targeting subunit for phosphatasePP1. Facilitates interaction of the PP1 with enzymes of theglycogen metabolism and regulates its activity. Suppresses therate at which PP1 dephosphorylates (inactivates) glycogenphosphorylase and enhances the rate at which it activates glycogensynthase and therefore limits glycogen breakdown. Its activity isinhibited by PYGL, resulting in inhibition of the glycogensynthase and glycogen phosphorylase phosphatase activities of PP1.Dramatically increases basal and insulin-stimulated glycogensynthesis upon overexpression in hepatocytes (By similarity).{ECO:0000250}. Transcriptional activator which regulates endothelin-1gene expression in endothelial cells. Binds to the consensussequence 5'-AGATAG-3'.

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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FusionGeneSequence for PPP1R3B_GATA2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PPP1R3B_GATA2


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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RelatedDrugs for PPP1R3B_GATA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PPP1R3B_GATA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPP1R3BC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneGATA2C0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneGATA2C3280030IMMUNODEFICIENCY 212ORPHANET;UNIPROT
TgeneGATA2C3463824MYELODYSPLASTIC SYNDROME2CTD_human;HPO;UNIPROT
TgeneGATA2C0007302Cartilage Diseases1CTD_human
TgeneGATA2C0024236Lymphedema1CTD_human;HPO
TgeneGATA2C0243050Cardiovascular Abnormalities1CTD_human
TgeneGATA2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneGATA2C0376634Craniofacial Abnormalities1CTD_human
TgeneGATA2C3279664Emberger syndrome1ORPHANET;UNIPROT