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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CCAR2-PDLIM2 (FusionGDB2 ID:13529)

Fusion Gene Summary for CCAR2-PDLIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: CCAR2-PDLIM2
Fusion gene ID: 13529
HgeneTgene
Gene symbol

CCAR2

PDLIM2

Gene ID

57805

64236

Gene namecell cycle and apoptosis regulator 2PDZ and LIM domain 2
SynonymsDBC-1|DBC1|KIAA1967|NET35|p30 DBC|p30DBCMYSTIQUE|SLIM
Cytomap

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 proteinPDZ and LIM domain protein 2
Modification date2020031320200313
UniProtAcc

Q8N163

.
Ensembl transtripts involved in fusion geneENST00000308511, ENST00000389279, 
ENST00000520861, ENST00000521301, 
ENST00000448520, ENST00000265810, 
ENST00000308354, ENST00000339162, 
ENST00000397760, ENST00000397761, 
ENST00000409141, ENST00000409417, 
Fusion gene scores* DoF score4 X 4 X 5=803 X 3 X 3=27
# samples 63
** MAII scorelog2(6/80*10)=-0.415037499278844
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: CCAR2 [Title/Abstract] AND PDLIM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCAR2(22465578)-PDLIM2(22442334), # samples:2
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
HgeneCCAR2

GO:0031647

regulation of protein stability

23398316

HgeneCCAR2

GO:0032435

negative regulation of proteasomal ubiquitin-dependent protein catabolic process

23398316

HgeneCCAR2

GO:0043653

mitochondrial fragmentation involved in apoptotic process

15824730

HgeneCCAR2

GO:0045892

negative regulation of transcription, DNA-templated

20160719

HgeneCCAR2

GO:0090311

regulation of protein deacetylation

21030595


check buttonFusion gene breakpoints across CCAR2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PDLIM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4READTCGA-EI-6884-01ACCAR2chr8

22465578

+PDLIM2chr8

22442334

+
ChimerDB4READTCGA-EI-6884CCAR2chr8

22465578

+PDLIM2chr8

22442334

+


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Fusion Gene ORF analysis for CCAR2-PDLIM2

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-intronENST00000308511ENST00000448520CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5CDS-intronENST00000389279ENST00000448520CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000265810CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000308354CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000339162CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000397760CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000397761CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000409141CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-3CDSENST00000520861ENST00000409417CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
5UTR-intronENST00000520861ENST00000448520CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000265810CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000308354CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000339162CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000397760CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000397761CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000409141CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000308511ENST00000409417CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000265810CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000308354CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000339162CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000397760CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000397761CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000409141CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
In-frameENST00000389279ENST00000409417CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000265810CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000308354CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000339162CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000397760CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000397761CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000409141CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-3CDSENST00000521301ENST00000409417CCAR2chr8

22465578

+PDLIM2chr8

22442334

+
intron-intronENST00000521301ENST00000448520CCAR2chr8

22465578

+PDLIM2chr8

22442334

+

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

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Fusion Genomic Features for CCAR2-PDLIM2


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+PDLIM2chr822442333+8.74E-101
CCAR2chr822465578+PDLIM2chr822442333+8.74E-101
CCAR2chr822465578+PDLIM2chr822442333+8.74E-101
CCAR2chr822465578+PDLIM2chr822442333+8.74E-101

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.
genomic feature

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%

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Fusion Protein Features for CCAR2-PDLIM2


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/chr8:22465578/chr8:22442334)
- 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
CCAR2

Q8N163

.
FUNCTION: Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions (PubMed:22446626). Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis (PubMed:18235501, PubMed:18235502, PubMed:23352644). Inhibits SUV39H1 methyltransferase activity (PubMed:19218236). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338). Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress (PubMed:23398316). Regulates the circadian expression of the core clock components NR1D1 and ARNTL/BMAL1 (PubMed:23398316). Enhances the transcriptional repressor activity of NR1D1 through stabilization of NR1D1 protein levels by preventing its ubiquitination and subsequent degradation (PubMed:23398316). Represses the ligand-dependent transcriptional activation function of ESR2 (PubMed:20074560). Acts as a regulator of PCK1 expression and gluconeogenesis by a mechanism that involves, at least in part, both NR1D1 and SIRT1 (PubMed:24415752). Negatively regulates the deacetylase activity of HDAC3 and can alter its subcellular localization (PubMed:21030595). Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway (PubMed:24824780). Represses ligand-dependent transcriptional activation function of NR1H2 and NR1H3 and inhibits the interaction of SIRT1 with NR1H3 (PubMed:25661920). Plays an important role in tumor suppression through p53/TP53 regulation; stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 (PubMed:25732823). Represses the transcriptional activator activity of BRCA1 (PubMed:20160719). Inhibits SIRT1 in a CHEK2 and PSEM3-dependent manner and inhibits the activity of CHEK2 in vitro (PubMed:25361978). {ECO:0000269|PubMed:18235501, ECO:0000269|PubMed:18235502, ECO:0000269|PubMed:19131338, ECO:0000269|PubMed:19218236, ECO:0000269|PubMed:20074560, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:21030595, ECO:0000269|PubMed:22446626, ECO:0000269|PubMed:23352644, ECO:0000269|PubMed:23398316, ECO:0000269|PubMed:24415752, ECO:0000269|PubMed:24824780, ECO:0000269|PubMed:25361978, ECO:0000269|PubMed:25661920, ECO:0000269|PubMed:25732823}.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
TgenePDLIM2chr8:22465578chr8:22442334ENST00000265810110114_16181367.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST0000033916229114_16181279.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST00000397760210114_16181353.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST00000397761210114_16181353.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST0000040914118114_16181279.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST0000040941719114_16181353.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST00000265810110284_34481367.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST0000033916229284_34481279.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST00000397760210284_34481353.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST00000397761210284_34481353.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST0000040914118284_34481279.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST0000040941719284_34481353.0DomainLIM zinc-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCAR2chr8:22465578chr8:22442334ENST00000308511+721829_909194924.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR2chr8:22465578chr8:22442334ENST00000389279+721829_909194924.0Coiled coilOntology_term=ECO:0000255
TgenePDLIM2chr8:22465578chr8:22442334ENST00000308354210114_161331603.0Compositional biasNote=Ser-rich
TgenePDLIM2chr8:22465578chr8:22442334ENST000002658101101_8481367.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST000003083542101_84331603.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST00000308354210284_344331603.0DomainLIM zinc-binding
TgenePDLIM2chr8:22465578chr8:22442334ENST00000339162291_8481279.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST000003977602101_8481353.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST000003977612101_8481353.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST00000409141181_8481279.0DomainPDZ
TgenePDLIM2chr8:22465578chr8:22442334ENST00000409417191_8481353.0DomainPDZ


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Fusion Gene Sequence for CCAR2-PDLIM2


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.

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Fusion Gene PPI Analysis for CCAR2-PDLIM2


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
HgeneCCAR2chr8:22465578chr8:22442334ENST00000308511+721610_670194.66666666666666924.0MCC
HgeneCCAR2chr8:22465578chr8:22442334ENST00000389279+721610_670194.66666666666666924.0MCC
HgeneCCAR2chr8:22465578chr8:22442334ENST00000308511+721704_923194.66666666666666924.0NR1D1
HgeneCCAR2chr8:22465578chr8:22442334ENST00000389279+721704_923194.66666666666666924.0NR1D1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CCAR2-PDLIM2


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

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Related Diseases for CCAR2-PDLIM2


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