Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:KIAA1967-PPP3CC (FusionGDB2 ID:HG57805TG5533)

Fusion Gene Summary for KIAA1967-PPP3CC

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1967-PPP3CC
Fusion gene ID: hg57805tg5533
HgeneTgene
Gene symbol

KIAA1967

PPP3CC

Gene ID

57805

5533

Gene namecell cycle and apoptosis regulator 2protein phosphatase 3 catalytic subunit gamma
SynonymsDBC-1|DBC1|KIAA1967|NET35|p30 DBC|p30DBCCALNA3|CNA3|PP2Bgamma
Cytomap('CCAR2','KIAA1967')('PPP3CC','PPP3CC')

8p21.3

8p21.3

Type of geneprotein-codingprotein-coding
Descriptioncell cycle and apoptosis regulator protein 2cell division cycle and apoptosis regulator protein 2deleted in breast cancer 1p30 DBC proteinserine/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 isof
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000308511, ENST00000389279, 
ENST00000520861, ENST00000521301, 
Fusion gene scores* DoF score4 X 4 X 5=807 X 8 X 4=224
# samples 68
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1967 [Title/Abstract] AND PPP3CC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCAR2(22470649)-PPP3CC(22368599), # samples:2
KIAA1967(22470649)-PPP3CC(22368598), # samples:1
Anticipated loss of major functional domain due to fusion event.CCAR2-PPP3CC seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CCAR2-PPP3CC seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CCAR2-PPP3CC seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneKIAA1967

GO:0031647

regulation of protein stability

23398316

HgeneKIAA1967

GO:0032435

negative regulation of proteasomal ubiquitin-dependent protein catabolic process

23398316

HgeneKIAA1967

GO:0043653

mitochondrial fragmentation involved in apoptotic process

15824730

HgeneKIAA1967

GO:0045892

negative regulation of transcription, DNA-templated

20160719

HgeneKIAA1967

GO:0090311

regulation of protein deacetylation

21030595

TgenePPP3CC

GO:0006470

protein dephosphorylation

19154138

TgenePPP3CC

GO:0033173

calcineurin-NFAT signaling cascade

19154138



check button Fusion gene information
* 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
ChimerDB4HNSCTCGA-MT-A67A-01ACCAR2chr8

22465578

+PPP3CCchr8

22398128

+
ChimerDB4OVTCGA-24-2297-01ACCAR2chr8

22470649

+PPP3CCchr8

22368599

+
ChimerDB4OVTCGA-24-2297KIAA1967chr8

22470649

+PPP3CCchr8

22368598

+


Top

Fusion Gene ORF analysis for KIAA1967-PPP3CC

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
5CDS-intronENST00000308511ENST00000240139CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000308511ENST00000289963CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000308511ENST00000397775CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000308511ENST00000518852CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000389279ENST00000240139CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000389279ENST00000289963CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000389279ENST00000397775CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5CDS-intronENST00000389279ENST00000518852CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5UTR-3CDSENST00000520861ENST00000240139CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
5UTR-3CDSENST00000520861ENST00000289963CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
5UTR-3CDSENST00000520861ENST00000397775CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
5UTR-3CDSENST00000520861ENST00000518852CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
5UTR-intronENST00000520861ENST00000240139CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5UTR-intronENST00000520861ENST00000289963CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5UTR-intronENST00000520861ENST00000397775CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
5UTR-intronENST00000520861ENST00000518852CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
Frame-shiftENST00000308511ENST00000240139CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000308511ENST00000289963CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000308511ENST00000397775CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000308511ENST00000518852CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000389279ENST00000240139CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000389279ENST00000289963CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000389279ENST00000397775CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
Frame-shiftENST00000389279ENST00000518852CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
intron-3CDSENST00000521301ENST00000240139CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
intron-3CDSENST00000521301ENST00000289963CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
intron-3CDSENST00000521301ENST00000397775CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
intron-3CDSENST00000521301ENST00000518852CCAR2chr8

22470649

+PPP3CCchr8

22368599

+
intron-intronENST00000521301ENST00000240139CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
intron-intronENST00000521301ENST00000289963CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
intron-intronENST00000521301ENST00000397775CCAR2chr8

22465578

+PPP3CCchr8

22398128

+
intron-intronENST00000521301ENST00000518852CCAR2chr8

22465578

+PPP3CCchr8

22398128

+

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 KIAA1967-PPP3CC


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)
CCAR2chr822465578+PPP3CCchr822398127+0.0005093590.9994906
CCAR2chr822470649+PPP3CCchr822368598+0.0004152750.99958473
CCAR2chr822465578+PPP3CCchr822398127+0.0005093590.9994906
CCAR2chr822470649+PPP3CCchr822368598+0.0004152750.99958473


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.
genomic feature of top 1%

Top

Fusion Protein Features for KIAA1967-PPP3CC


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/:22470649/:22368599)
- 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
..
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}.

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 KIAA1967-PPP3CC


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 KIAA1967-PPP3CC


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 KIAA1967-PPP3CC


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 KIAA1967-PPP3CC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCAR2C0043020Wallerian Degeneration1CTD_human
TgeneC0036341Schizophrenia4PSYGENET
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0349204Nonorganic psychosis1PSYGENET