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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:CCAR2-PDLIM2 (FusionGDB2 ID:13570) |
Fusion Gene Summary for CCAR2-PDLIM2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CCAR2-PDLIM2 | Fusion gene ID: 13570 | Hgene | Tgene | Gene symbol | CCAR2 | PDLIM2 | Gene ID | 57805 | 64236 |
Gene name | cell cycle and apoptosis regulator 2 | PDZ and LIM domain 2 | |
Synonyms | DBC-1|DBC1|KIAA1967|NET35|p30 DBC|p30DBC | MYSTIQUE|SLIM | |
Cytomap | 8p21.3 | 8p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cell cycle and apoptosis regulator protein 2cell division cycle and apoptosis regulator protein 2deleted in breast cancer 1p30 DBC protein | PDZ and LIM domain protein 2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8N163 | . | |
Ensembl transtripts involved in fusion gene | ENST00000308511, ENST00000521301, ENST00000389279, ENST00000520861, | ENST00000308354, ENST00000397760, ENST00000339162, ENST00000397761, ENST00000409141, ENST00000265810, ENST00000409417, ENST00000448520, | |
Fusion gene scores | * DoF score | 4 X 4 X 5=80 | 3 X 3 X 3=27 |
# samples | 6 | 3 | |
** MAII score | log2(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 breakpoint | CCAR2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CCAR2 | GO:0031647 | regulation of protein stability | 23398316 |
Hgene | CCAR2 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 23398316 |
Hgene | CCAR2 | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 15824730 |
Hgene | CCAR2 | GO:0045892 | negative regulation of transcription, DNA-templated | 20160719 |
Hgene | CCAR2 | GO:0090311 | regulation of protein deacetylation | 21030595 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | READ | TCGA-EI-6884-01A | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
ChimerDB4 | READ | TCGA-EI-6884 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
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Fusion Gene ORF analysis for CCAR2-PDLIM2 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000308511 | ENST00000308354 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000397760 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000339162 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000397761 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000409141 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000265810 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000308511 | ENST00000409417 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5CDS-intron | ENST00000308511 | ENST00000448520 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000308354 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000397760 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000339162 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000397761 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000409141 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000265810 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-3CDS | ENST00000521301 | ENST00000409417 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
intron-intron | ENST00000521301 | ENST00000448520 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000308354 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000397760 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000339162 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000397761 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000409141 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000265810 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
In-frame | ENST00000389279 | ENST00000409417 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5CDS-intron | ENST00000389279 | ENST00000448520 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000308354 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000397760 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000339162 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000397761 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000409141 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000265810 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-3CDS | ENST00000520861 | ENST00000409417 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
5UTR-intron | ENST00000520861 | ENST00000448520 | CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442334 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CCAR2-PDLIM2 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442333 | + | 8.74E-10 | 1 |
CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442333 | + | 8.74E-10 | 1 |
CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442333 | + | 8.74E-10 | 1 |
CCAR2 | chr8 | 22465578 | + | PDLIM2 | chr8 | 22442333 | + | 8.74E-10 | 1 |
Distribution 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. |
Distribution 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. |
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Fusion Protein Features for CCAR2-PDLIM2 |
Go to FGviewer for the breakpoints of 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CCAR2 | . |
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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
Retention 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 * 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 |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000265810 | 1 | 10 | 114_161 | 81.66666666666667 | 367.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000339162 | 2 | 9 | 114_161 | 81.66666666666667 | 279.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397760 | 2 | 10 | 114_161 | 81.66666666666667 | 353.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397761 | 2 | 10 | 114_161 | 81.66666666666667 | 353.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409141 | 1 | 8 | 114_161 | 81.66666666666667 | 279.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409417 | 1 | 9 | 114_161 | 81.66666666666667 | 353.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000265810 | 1 | 10 | 284_344 | 81.66666666666667 | 367.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000339162 | 2 | 9 | 284_344 | 81.66666666666667 | 279.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397760 | 2 | 10 | 284_344 | 81.66666666666667 | 353.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397761 | 2 | 10 | 284_344 | 81.66666666666667 | 353.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409141 | 1 | 8 | 284_344 | 81.66666666666667 | 279.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409417 | 1 | 9 | 284_344 | 81.66666666666667 | 353.0 | Domain | LIM zinc-binding |
- 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 |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000308511 | + | 7 | 21 | 829_909 | 194.66666666666666 | 924.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000389279 | + | 7 | 21 | 829_909 | 194.66666666666666 | 924.0 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000308354 | 2 | 10 | 114_161 | 331.6666666666667 | 603.0 | Compositional bias | Note=Ser-rich | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000265810 | 1 | 10 | 1_84 | 81.66666666666667 | 367.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000308354 | 2 | 10 | 1_84 | 331.6666666666667 | 603.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000308354 | 2 | 10 | 284_344 | 331.6666666666667 | 603.0 | Domain | LIM zinc-binding | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000339162 | 2 | 9 | 1_84 | 81.66666666666667 | 279.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397760 | 2 | 10 | 1_84 | 81.66666666666667 | 353.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000397761 | 2 | 10 | 1_84 | 81.66666666666667 | 353.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409141 | 1 | 8 | 1_84 | 81.66666666666667 | 279.0 | Domain | PDZ | |
Tgene | PDLIM2 | chr8:22465578 | chr8:22442334 | ENST00000409417 | 1 | 9 | 1_84 | 81.66666666666667 | 353.0 | Domain | PDZ |
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Fusion Gene Sequence for CCAR2-PDLIM2 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000308511 | + | 7 | 21 | 610_670 | 194.66666666666666 | 924.0 | MCC |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000389279 | + | 7 | 21 | 610_670 | 194.66666666666666 | 924.0 | MCC |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000308511 | + | 7 | 21 | 704_923 | 194.66666666666666 | 924.0 | NR1D1 |
Hgene | CCAR2 | chr8:22465578 | chr8:22442334 | ENST00000389279 | + | 7 | 21 | 704_923 | 194.66666666666666 | 924.0 | NR1D1 |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CCAR2-PDLIM2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CCAR2-PDLIM2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CCAR2 | C0043020 | Wallerian Degeneration | 1 | CTD_human |