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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:E2F8-CSRP3 (FusionGDB2 ID:24773) |
Fusion Gene Summary for E2F8-CSRP3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: E2F8-CSRP3 | Fusion gene ID: 24773 | Hgene | Tgene | Gene symbol | E2F8 | CSRP3 | Gene ID | 79733 | 8048 |
| Gene name | E2F transcription factor 8 | cysteine and glycine rich protein 3 | |
| Synonyms | E2F-8 | CLP|CMD1M|CMH12|CRP3|LMO4|MLP | |
| Cytomap | 11p15.1 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor E2F8E2F family member 8 | cysteine and glycine-rich protein 3LIM domain only 4cardiac LIM domain proteincysteine and glycine-rich protein 3 (cardiac LIM protein)muscle lim protein isoform | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | P50461 | |
| Ensembl transtripts involved in fusion gene | ENST00000527884, ENST00000250024, ENST00000529188, | ENST00000265968, ENST00000533783, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: E2F8 [Title/Abstract] AND CSRP3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | E2F8(19261654)-CSRP3(19223586), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | E2F8-CSRP3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. E2F8-CSRP3 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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) |
| 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 | E2F8 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16179649 |
| Fusion gene breakpoints across E2F8 (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 CSRP3 (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 | BLCA | TCGA-G2-A3VY-01A | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
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Fusion Gene ORF analysis for E2F8-CSRP3 |
| 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 | ENST00000527884 | ENST00000265968 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| 5CDS-5UTR | ENST00000527884 | ENST00000533783 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| Frame-shift | ENST00000250024 | ENST00000265968 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| 5CDS-5UTR | ENST00000250024 | ENST00000533783 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| intron-3CDS | ENST00000529188 | ENST00000265968 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| intron-5UTR | ENST00000529188 | ENST00000533783 | E2F8 | chr11 | 19261654 | - | CSRP3 | chr11 | 19223586 | - |
| 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 E2F8-CSRP3 |
| 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) |
| 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 E2F8-CSRP3 |
| Go to FGviewer for the breakpoints of chr11:19261654-chr11:19223586 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | CSRP3 |
| 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. | FUNCTION: Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity). {ECO:0000250|UniProtKB:P50462, ECO:0000250|UniProtKB:P50463, ECO:0000269|PubMed:19752190, ECO:0000269|PubMed:24934443, ECO:0000269|PubMed:27353086}.; FUNCTION: [Isoform 2]: May play a role in early sarcomere organization. Overexpression in myotubes negatively regulates myotube differentiation. By association with isoform 1 and thus changing the CSRP3 isoform 1:CFL2 stoichiometry is proposed to down-regulate CFL2-mediated F-actin depolymerization. {ECO:0000269|PubMed:24860983}. |
| 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 | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 177_185 | 0 | 195.0 | Compositional bias | Note=Gly-rich | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 63_78 | 0 | 195.0 | Compositional bias | Note=Gly-rich | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 177_185 | 0 | 195.0 | Compositional bias | Note=Gly-rich | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 63_78 | 0 | 195.0 | Compositional bias | Note=Gly-rich | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 10_61 | 0 | 195.0 | Domain | LIM zinc-binding 1 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 120_171 | 0 | 195.0 | Domain | LIM zinc-binding 2 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 10_61 | 0 | 195.0 | Domain | LIM zinc-binding 1 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 120_171 | 0 | 195.0 | Domain | LIM zinc-binding 2 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 64_69 | 0 | 195.0 | Motif | Nuclear localization signal | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 64_69 | 0 | 195.0 | Motif | Nuclear localization signal |
| - 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 | E2F8 | chr11:19261654 | chr11:19223586 | ENST00000250024 | - | 2 | 13 | 113_182 | 5.0 | 868.0 | DNA binding | Ontology_term=ECO:0000255 |
| Hgene | E2F8 | chr11:19261654 | chr11:19223586 | ENST00000250024 | - | 2 | 13 | 261_347 | 5.0 | 868.0 | DNA binding | Ontology_term=ECO:0000255 |
| Hgene | E2F8 | chr11:19261654 | chr11:19223586 | ENST00000527884 | - | 2 | 13 | 113_182 | 5.0 | 868.0 | DNA binding | Ontology_term=ECO:0000255 |
| Hgene | E2F8 | chr11:19261654 | chr11:19223586 | ENST00000527884 | - | 2 | 13 | 261_347 | 5.0 | 868.0 | DNA binding | Ontology_term=ECO:0000255 |
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Fusion Gene Sequence for E2F8-CSRP3 |
| 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 E2F8-CSRP3 |
| 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 |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 94_105 | 0 | 195.0 | CLF2 and isoform 2 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 94_105 | 0 | 195.0 | CLF2 and isoform 2 | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000265968 | -1 | 6 | 1_5 | 0 | 195.0 | TCAP | |
| Tgene | CSRP3 | chr11:19261654 | chr11:19223586 | ENST00000533783 | 0 | 7 | 1_5 | 0 | 195.0 | TCAP |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - 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 E2F8-CSRP3 |
| 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 E2F8-CSRP3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | E2F8 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | E2F8 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | E2F8 | C0235874 | Disease Exacerbation | 1 | CTD_human |
| Hgene | E2F8 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | CSRP3 | C2677491 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | CSRP3 | C1843808 | CARDIOMYOPATHY, DILATED, 1M | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | CSRP3 | C0013146 | Drug abuse | 1 | CTD_human |
| Tgene | CSRP3 | C0013170 | Drug habituation | 1 | CTD_human |
| Tgene | CSRP3 | C0013222 | Drug Use Disorders | 1 | CTD_human |
| Tgene | CSRP3 | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
| Tgene | CSRP3 | C0038580 | Substance Dependence | 1 | CTD_human |
| Tgene | CSRP3 | C0038586 | Substance Use Disorders | 1 | CTD_human |
| Tgene | CSRP3 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | CSRP3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | CSRP3 | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET |
| Tgene | CSRP3 | C0740858 | Substance abuse problem | 1 | CTD_human |
| Tgene | CSRP3 | C1510472 | Drug Dependence | 1 | CTD_human |
| Tgene | CSRP3 | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
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