FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 28486

FusionGeneSummary for PPP3CC_PRKAG2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP3CC_PRKAG2
Fusion gene ID: 28486
HgeneTgene
Gene symbol

PPP3CC

PRKAG2

Gene ID

5533

51422

Gene nameprotein phosphatase 3 catalytic subunit gammaprotein kinase AMP-activated non-catalytic subunit gamma 2
SynonymsCALNA3|CNA3|PP2BgammaAAKG|AAKG2|CMH6|H91620p|WPWS
Cytomap

8p21.3

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 2B catalytic subunit gamma isoformCAM-PRP catalytic subunitcalcineurin, testis-specific catalytic subunitcalmodulin-dependent calcineurin A subunit gamma isoformprotein phosphatase 2B, catalytic subunit, gamma isof5'-AMP-activated protein kinase subunit gamma-2AMPK subunit gamma-2protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Modification date2018052320180529
UniProtAcc

P48454

Q9UGJ0

Ensembl transtripts involved in fusion geneENST00000518852, ENST00000240139, 
ENST00000289963, ENST00000397775, 
ENST00000287878, ENST00000418337, 
ENST00000433631, ENST00000492843, 
ENST00000392801, ENST00000461529, 
Fusion gene scores* DoF score7 X 5 X 6=2108 X 8 X 4=256
# samples 109
** MAII scorelog2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP3CC [Title/Abstract] AND PRKAG2 [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
HgenePPP3CC

GO:0006470

protein dephosphorylation

19154138

HgenePPP3CC

GO:0033173

calcineurin-NFAT signaling cascade

19154138

TgenePRKAG2

GO:0006469

negative regulation of protein kinase activity

17255938


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
ChiTaRS3.1BG007354PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
* 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-3UTRENST00000518852ENST00000287878PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000518852ENST00000418337PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000518852ENST00000433631PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000518852ENST00000492843PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000518852ENST00000392801PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-intronENST00000518852ENST00000461529PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000240139ENST00000287878PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000240139ENST00000418337PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000240139ENST00000433631PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000240139ENST00000492843PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000240139ENST00000392801PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-intronENST00000240139ENST00000461529PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000289963ENST00000287878PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000289963ENST00000418337PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000289963ENST00000433631PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000289963ENST00000492843PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000289963ENST00000392801PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-intronENST00000289963ENST00000461529PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000397775ENST00000287878PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000397775ENST00000418337PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000397775ENST00000433631PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000397775ENST00000492843PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-3UTRENST00000397775ENST00000392801PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-
intron-intronENST00000397775ENST00000461529PPP3CCchr8

22384338

-PRKAG2chr7

151254066

-

Top

FusionProtFeatures for PPP3CC_PRKAG2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP3CC

P48454

PRKAG2

Q9UGJ0

Calcium-dependent, calmodulin-stimulated proteinphosphatase which plays an essential role in the transduction ofintracellular Ca(2+)-mediated signals. Dephosphorylates andactivates transcription factor NFATC1. Dephosphorylates andinactivates transcription factor ELK1. Dephosphorylates DARPP32.{ECO:0000269|PubMed:19154138}. AMP/ATP-binding subunit of AMP-activated protein kinase(AMPK), an energy sensor protein kinase that plays a key role inregulating cellular energy metabolism. In response to reduction ofintracellular ATP levels, AMPK activates energy-producing pathwaysand inhibits energy-consuming processes: inhibits protein,carbohydrate and lipid biosynthesis, as well as cell growth andproliferation. AMPK acts via direct phosphorylation of metabolicenzymes, and by longer-term effects via phosphorylation oftranscription regulators. Also acts as a regulator of cellularpolarity by remodeling the actin cytoskeleton; probably byindirectly activating myosin. Gamma non-catalytic subunit mediatesbinding to AMP, ADP and ATP, leading to activate or inhibit AMPK:AMP-binding results in allosteric activation of alpha catalyticsubunit (PRKAA1 or PRKAA2) both by inducing phosphorylation andpreventing dephosphorylation of catalytic subunits. ADP alsostimulates phosphorylation, without stimulating alreadyphosphorylated catalytic subunit. ATP promotes dephosphorylationof catalytic subunit, rendering the AMPK enzyme inactive.{ECO:0000269|PubMed:14722619}.

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


Top

FusionGeneSequence for PPP3CC_PRKAG2


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).

Top

FusionGenePPI for PPP3CC_PRKAG2


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


Top

RelatedDrugs for PPP3CC_PRKAG2


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

Top

RelatedDiseases for PPP3CC_PRKAG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPP3CCC0036341Schizophrenia4PSYGENET
HgenePPP3CCC0005586Bipolar Disorder1PSYGENET
HgenePPP3CCC0011570Mental Depression1PSYGENET
HgenePPP3CCC0011581Depressive disorder1PSYGENET
HgenePPP3CCC0033975Psychotic Disorders1PSYGENET
HgenePPP3CCC0349204Nonorganic psychosis1PSYGENET
TgenePRKAG2C0043202Wolff-Parkinson-White Syndrome4CTD_human;HPO;UNIPROT
TgenePRKAG2C1833236CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)3CTD_human;UNIPROT
TgenePRKAG2C1849813Glycogen Storage Disease of Heart, Lethal Congenital1CTD_human;ORPHANET;UNIPROT