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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: 28473

FusionGeneSummary for PPP3CA_MAK

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP3CA_MAK
Fusion gene ID: 28473
HgeneTgene
Gene symbol

PPP3CA

MAK

Gene ID

5530

4117

Gene nameprotein phosphatase 3 catalytic subunit alphamale germ cell associated kinase
SynonymsCALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2BRP62
Cytomap

4q24

6p24.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 2B catalytic subunit alpha isoformCAM-PRP catalytic subunitcalcineurin A alphacalmodulin-dependent calcineurin A subunit alpha isoformprotein phosphatase 2B, catalytic subunit, alpha isoformprotein phosphatase 3 (serine/threonine-protein kinase MAKmale germ cell-associated kinase retinal-enriched isoformserine/threonine protein kinase MAKtesticular secretory protein Li 28
Modification date2018052320180523
UniProtAcc

Q08209

P20794

Ensembl transtripts involved in fusion geneENST00000512215, ENST00000394854, 
ENST00000323055, ENST00000394853, 
ENST00000507176, ENST00000523694, 
ENST00000510292, 		ENST00000354489, 
ENST00000313243, ENST00000474039, 
ENST00000538030, ENST00000536370, 
Fusion gene scores* DoF score11 X 7 X 5=3853 X 3 X 3=27
# samples 93
** MAII scorelog2(9/385*10)=-2.09686153925259
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP3CA [Title/Abstract] AND MAK [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
HgenePPP3CA

GO:0006470

protein dephosphorylation

18815128|19154138

HgenePPP3CA

GO:0033173

calcineurin-NFAT signaling cascade

19154138|22688515

HgenePPP3CA

GO:0035690

cellular response to drug

11005320

HgenePPP3CA

GO:0045944

positive regulation of transcription by RNA polymerase II

22688515

HgenePPP3CA

GO:0051592

response to calcium ion

18815128

TgeneMAK

GO:0006468

protein phosphorylation

21986944


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
TCGALDPRADTCGA-HC-8266-01APPP3CAchr4

102117073

-MAKchr6

10796542

-
* 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
Frame-shiftENST00000512215ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000512215ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000512215ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000512215ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
5CDS-3UTRENST00000512215ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394854ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394854ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394854ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394854ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
5CDS-3UTRENST00000394854ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000323055ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000323055ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000323055ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000323055ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
5CDS-3UTRENST00000323055ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394853ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394853ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394853ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
Frame-shiftENST00000394853ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
5CDS-3UTRENST00000394853ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000507176ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000507176ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000507176ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000507176ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3UTRENST00000507176ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000523694ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000523694ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000523694ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000523694ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3UTRENST00000523694ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000510292ENST00000354489PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000510292ENST00000313243PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000510292ENST00000474039PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3CDSENST00000510292ENST00000538030PPP3CAchr4

102117073

-MAKchr6

10796542

-
intron-3UTRENST00000510292ENST00000536370PPP3CAchr4

102117073

-MAKchr6

10796542

-

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FusionProtFeatures for PPP3CA_MAK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP3CA

Q08209

MAK

P20794

Calcium-dependent, calmodulin-stimulated proteinphosphatase which plays an essential role in the transduction ofintracellular Ca(2+)-mediated signals (PubMed:15671020,PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of thesubstrates contain a PxIxIT motif and/or a LxVP motif(PubMed:17498738, PubMed:17502104, PubMed:23468591,PubMed:27974827, PubMed:22343722). In response to increased Ca(2+)levels, dephosphorylates and activates phosphatase SSH1 whichresults in cofilin dephosphorylation (PubMed:15671020). Inresponse to increased Ca(2+) levels following mitochondrialdepolarization, dephosphorylates DNM1L inducing DNM1Ltranslocation to the mitochondrion (PubMed:18838687).Dephosphorylates heat shock protein HSPB1 (By similarity).Dephosphorylates and activates transcription factor NFATC1(PubMed:19154138). In response to increased Ca(2+) levels,regulates NFAT-mediated transcription probably bydephosphorylating NFAT and promoting its nuclear translocation(PubMed:26248042). Dephosphorylates and inactivates transcriptionfactor ELK1 (PubMed:19154138). Dephosphorylates DARPP32(PubMed:19154138). {ECO:0000250|UniProtKB:P48452,ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:17498738,ECO:0000269|PubMed:17502104, ECO:0000269|PubMed:18838687,ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:22343722,ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:26248042,ECO:0000269|PubMed:27974827}. Essential for the regulation of ciliary length andrequired for the long-term survival of photoreceptors (Bysimilarity). Phosphorylates FZR1 in a cell cycle-dependent manner.Plays a role in the transcriptional coactivation of AR. Could playan important function in spermatogenesis. May play a role inchromosomal stability in prostate cancer cells. {ECO:0000250,ECO:0000269|PubMed:12084720, ECO:0000269|PubMed:16951154,ECO:0000269|PubMed:21986944}.

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 PPP3CA_MAK


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 PPP3CA_MAK


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
PPP3CAC16orf74, PPIA, RCAN1, ADRB2, RCAN2, AKAP5, BCL2, CABIN1, MYOZ2, MYOZ1, IRF2, GRB2, AKT1, PHLPP2, PTEN, PSMA6, PDE4D, KCNIP3, TRAF3, PPP3R1, MRI1, RHOC, MAPK7, HNRNPH1, P3H1, SETSIP, MAT2B, NASP, NRD1, PDIA6, PFDN5, PPP2R2A, TNPO3, TNPO1, TSN, VBP1, XPO5, MARCH7, CEP76, TP53, VCP, JUN, FAM122A, RASSF2, PDHB, RCAN3, NFATC4, SIK3, ARFIP1, C6orf211, PSMD9, CRTC2, LBH, NCAPG, TUBA1B, DEFA1, TMEM200A, SMPD3, NFATC1, KLRG2, AATK, FGFR4, RYK, PTK7MAKMAK, CDK20, FZR1, APP, SLAMF7, SERINC1, ANAPC11, NDUFB7, PPP2CB, SND1, PVRL3, FLG, ICK, KIAA0556, PRDX2


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 PPP3CA_MAK


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 PPP3CA_MAK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPP3CAC0019202Hepatolenticular Degeneration1CTD_human
HgenePPP3CAC0030305Pancreatitis1CTD_human
HgenePPP3CAC0033578Prostatic Neoplasms1CTD_human
HgenePPP3CAC0039584Testicular Diseases1CTD_human
HgenePPP3CAC0149721Left Ventricular Hypertrophy1CTD_human
HgenePPP3CAC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneMAKC3280042RETINITIS PIGMENTOSA 621UNIPROT