![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:PPP3CA-ACTL6A (FusionGDB2 ID:HG5530TG86) |
Fusion Gene Summary for PPP3CA-ACTL6A |
![]() |
Fusion gene information | Fusion gene name: PPP3CA-ACTL6A | Fusion gene ID: hg5530tg86 | Hgene | Tgene | Gene symbol | PPP3CA | ACTL6A | Gene ID | 5530 | 86 |
Gene name | protein phosphatase 3 catalytic subunit alpha | actin like 6A | |
Synonyms | ACCIID|CALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2B | ACTL6|ARPN-BETA|Arp4|BAF53A|INO80K | |
Cytomap | ('PPP3CA')('ACTL6A') 4q24 | 3q26.33 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/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 date | 20200315 | 20200315 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000323055, ENST00000394853, ENST00000394854, ENST00000507176, ENST00000510292, ENST00000512215, ENST00000523694, | ||
Fusion gene scores | * DoF score | 25 X 13 X 8=2600 | 7 X 7 X 3=147 |
# samples | 23 | 7 | |
** MAII score | log2(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 breakpoint | PPP3CA(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PPP3CA | GO:0006470 | protein dephosphorylation | 18815128|19154138 |
Hgene | PPP3CA | GO:0033173 | calcineurin-NFAT signaling cascade | 19154138|22688515 |
Hgene | PPP3CA | GO:0035690 | cellular response to drug | 11005320 |
Hgene | PPP3CA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22688515 |
Hgene | PPP3CA | GO:0051592 | response to calcium ion | 18815128 |
Tgene | ACTL6A | GO:0006338 | chromatin remodeling | 11726552 |
Tgene | ACTL6A | GO:0043967 | histone H4 acetylation | 14966270 |
Tgene | ACTL6A | GO:0043968 | histone H2A acetylation | 14966270 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Top |
Fusion Gene ORF analysis for PPP3CA-ACTL6A |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for PPP3CA-ACTL6A |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for PPP3CA-ACTL6A |
![]() 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. |
![]() |
![]() |
Hgene | Tgene |
. | . |
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: 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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
Fusion Gene Sequence for PPP3CA-ACTL6A |
![]() |
Top |
Fusion Gene PPI Analysis for PPP3CA-ACTL6A |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for PPP3CA-ACTL6A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for PPP3CA-ACTL6A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PPP3CA | C4540199 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | PPP3CA | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
Hgene | PPP3CA | C0030305 | Pancreatitis | 1 | CTD_human |
Hgene | PPP3CA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | PPP3CA | C0039584 | Testicular Diseases | 1 | CTD_human |
Hgene | PPP3CA | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | PPP3CA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Hgene | PPP3CA | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | PPP3CA | C1527352 | Hepatic Form of Wilson Disease | 1 | CTD_human |
Hgene | PPP3CA | C4721610 | Carcinoma, Ovarian Epithelial | 1 | CTD_human |
Hgene | PPP3CA | C4748872 | ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | 1 | UNIPROT |
Tgene | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND | |
Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |