FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PPP3CA-ACTL6A (FusionGDB2 ID:68111)

Fusion Gene Summary for PPP3CA-ACTL6A

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP3CA-ACTL6A
Fusion gene ID: 68111
HgeneTgene
Gene symbol

PPP3CA

ACTL6A

Gene ID

5530

86

Gene nameprotein phosphatase 3 catalytic subunit alphaactin like 6A
SynonymsACCIID|CALN|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 date2020031520200315
UniProtAcc.

O96019

Ensembl transtripts involved in fusion geneENST00000323055, ENST00000394853, 
ENST00000394854, ENST00000507176, 
ENST00000510292, ENST00000512215, 
ENST00000523694, 		ENST00000392662, 
ENST00000429709, ENST00000450518, 
ENST00000467615, 
Fusion gene scores* DoF score25 X 13 X 8=26007 X 7 X 3=147
# samples 237
** MAII scorelog2(23/2600*10)=-3.49880585697144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP3CA [Title/Abstract] AND ACTL6A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPP3CA(102249607)-ACTL6A(179280714), # 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
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 buttonFusion gene breakpoints across PPP3CA (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 ACTL6A (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
ChiTaRS5.0N/ADA647290PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+


Top

Fusion Gene ORF analysis for PPP3CA-ACTL6A

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-5UTRENST00000323055ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000323055ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000323055ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394853ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000394854ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000507176ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000510292ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000512215ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000512215ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000512215ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000392662PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000429709PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-5UTRENST00000523694ENST00000450518PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000323055ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000394853ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000394854ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000507176ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000510292ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000512215ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+
intron-intronENST00000523694ENST00000467615PPP3CAchr4

102249607

-ACTL6Achr3

179280714

+

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

Top

Fusion Genomic Features for PPP3CA-ACTL6A


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)

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.

Top

Fusion Protein Features for PPP3CA-ACTL6A


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/:102249607/:179280714)
- 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
.ACTL6A

O96019

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}.FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Putative core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. {ECO:0000250|UniProtKB:Q9Z2N8, ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:29374058, 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


Top

Fusion Gene Sequence for PPP3CA-ACTL6A


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.

Top

Fusion Gene PPI Analysis 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


Top

Related Drugs for PPP3CA-ACTL6A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for PPP3CA-ACTL6A


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