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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: 28467

FusionGeneSummary for PPP3CA_ACTL6A

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP3CA_ACTL6A
Fusion gene ID: 28467
HgeneTgene
Gene symbol

PPP3CA

ACTL6A

Gene ID

5530

86

Gene nameprotein phosphatase 3 catalytic subunit alphaactin like 6A
SynonymsCALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2BACTL6|ARPN-BETA|Arp4|BAF53A|INO80K
Cytomap

4q24

3q26.33

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 (actin-like protein 6A53 kDa BRG1-associated factor ABAF complex 53 kDa subunitBAF53BRG1-associated factor 53AINO80 complex subunit Kactin-related protein 4actin-related protein Baf53aarpNbetahArpN beta
Modification date2018052320180519
UniProtAcc

Q08209

O96019

Ensembl transtripts involved in fusion geneENST00000512215, ENST00000394854, 
ENST00000323055, ENST00000394853, 
ENST00000507176, ENST00000523694, 
ENST00000510292, 		ENST00000429709, 
ENST00000450518, ENST00000392662, 
ENST00000467615, 
Fusion gene scores* DoF score11 X 7 X 5=3854 X 4 X 2=32
# samples 94
** MAII scorelog2(9/385*10)=-2.09686153925259
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP3CA [Title/Abstract] AND ACTL6A [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

TgeneACTL6A

GO:0006338

chromatin remodeling

11726552

TgeneACTL6A

GO:0043967

histone H4 acetylation

14966270

TgeneACTL6A

GO:0043968

histone H2A acetylation

14966270


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
ChiTaRS3.1DA647290PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
* 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-5UTRENST00000512215ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000512215ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000512215ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000512215ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000394854ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000323055ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000323055ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000323055ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000323055ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000394853ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000507176ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000523694ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000510292ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+

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FusionProtFeatures for PPP3CA_ACTL6A


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

Q08209

ACTL6A

O96019

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}. Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. Required for maximal ATPase activity ofSMARCA4/BRG1/BAF190A and for association of theSMARCA4/BRG1/BAF190A containing remodeling complex BAF withchromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and isrequired for the proliferation of neural progenitors. Duringneural development a switch from a stem/progenitor to apostmitotic chromatin remodeling mechanism occurs as neurons exitthe cell cycle and become committed to their adult state. Thetransition from proliferating neural stem/progenitor cells topostmitotic neurons requires a switch in subunit composition ofthe npBAF and nBAF complexes. As neural progenitors exit mitosisand differentiate into neurons, npBAF complexes which containACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunitsin neuron-specific complexes (nBAF). The npBAF complex isessential for the self-renewal/proliferative capacity of themultipotent neural stem cells. The nBAF complex along with CRESTplays a role regulating the activity of genes essential fordendrite growth (By similarity). Component of the NuA4 histoneacetyltransferase (HAT) complex which is involved intranscriptional activation of select genes principally byacetylation of nucleosomal histones H4 and H2A. This modificationmay both alter nucleosome - DNA interactions and promoteinteraction of the modified histones with other proteins whichpositively regulate transcription. This complex may be requiredfor the activation of transcriptional programs associated withoncogene and proto-oncogene mediated growth induction, tumorsuppressor mediated growth arrest and replicative senescence,apoptosis, and DNA repair. NuA4 may also play a direct role in DNArepair when recruited to sites of DNA damage. Putative corecomponent of the chromatin remodeling INO80 complex which isinvolved in transcriptional regulation, DNA replication andprobably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8,ECO:0000269|PubMed:14966270, ECO:0000303|PubMed:15196461,ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.

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_ACTL6A


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_ACTL6A


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 PPP3CA_ACTL6A


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_ACTL6A


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