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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:EPM2A-RPL5 (FusionGDB2 ID:HG7957TG6125) |
Fusion Gene Summary for EPM2A-RPL5 |
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Fusion gene information | Fusion gene name: EPM2A-RPL5 | Fusion gene ID: hg7957tg6125 | Hgene | Tgene | Gene symbol | EPM2A | RPL5 | Gene ID | 7957 | 6125 |
Gene name | EPM2A glucan phosphatase, laforin | ribosomal protein L5 | |
Synonyms | EPM2|MELF | L5|MSTP030|PPP1R135|uL18 | |
Cytomap | ('EPM2A')('RPL5') 6q24.3 | 1p22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | laforinEPM2A, laforin glucan phosphataseLAFPTPaseepilepsy, progressive myoclonus type 2, Lafora disease (laforin)epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)glucan phosphataseglycogen phosphataselafora PTPase | 60S ribosomal protein L5large ribosomal subunit protein uL18protein phosphatase 1, regulatory subunit 135 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O95278 | . | |
Ensembl transtripts involved in fusion gene | ENST00000367519, ENST00000496228, | ||
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 12 X 10 X 5=600 |
# samples | 2 | 14 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(14/600*10)=-2.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EPM2A [Title/Abstract] AND RPL5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EPM2A(145757503)-RPL5(93307421), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | RPL5 | GO:0010628 | positive regulation of gene expression | 18560357 |
Tgene | RPL5 | GO:0045727 | positive regulation of translation | 16213212 |
Tgene | RPL5 | GO:1904667 | negative regulation of ubiquitin protein ligase activity | 18560357 |
Tgene | RPL5 | GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process | 18560357 |
Tgene | RPL5 | GO:2000435 | negative regulation of protein neddylation | 18560357 |
![]() * 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 |
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Fusion Gene ORF analysis for EPM2A-RPL5 |
![]() * 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 |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EPM2A-RPL5 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for EPM2A-RPL5 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:145757503/:93307421) - 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. |
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Hgene | Tgene |
EPM2A | . |
FUNCTION: Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (By similarity). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062). {ECO:0000250|UniProtKB:Q9WUA5, ECO:0000269|PubMed:11001928, ECO:0000269|PubMed:11220751, ECO:0000269|PubMed:11739371, ECO:0000269|PubMed:14532330, ECO:0000269|PubMed:14722920, ECO:0000269|PubMed:16901901, ECO:0000269|PubMed:16971387, ECO:0000269|PubMed:18070875, ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:19036738, ECO:0000269|PubMed:20453062, ECO:0000269|PubMed:22036712, ECO:0000269|PubMed:23624058, ECO:0000269|PubMed:23922729, ECO:0000269|PubMed:25538239, ECO:0000269|PubMed:25544560, ECO:0000269|PubMed:26231210}.; FUNCTION: [Isoform 2]: does not bind to glycogen (PubMed:18617530). Lacks phosphatase activity and might function as a dominant-negative regulator for the phosphatase activity of isoform 1 and isoform 7 (PubMed:18617530, PubMed:22036712). {ECO:0000269|PubMed:18617530, ECO:0000269|PubMed:22036712}.; FUNCTION: [Isoform 7]: has phosphatase activity (in vitro). {ECO:0000269|PubMed:22036712}. | 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 |
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Fusion Gene Sequence for EPM2A-RPL5 |
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Fusion Gene PPI Analysis for EPM2A-RPL5 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for EPM2A-RPL5 |
![]() (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 EPM2A-RPL5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EPM2A | C0751783 | Lafora Disease | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | EPM2A | C0751776 | Atypical Inclusion-Body Disease | 1 | CTD_human |
Hgene | EPM2A | C0751777 | Familial Progressive Myoclonic Epilepsy | 1 | CTD_human |
Hgene | EPM2A | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human |
Hgene | EPM2A | C0751779 | Action Myoclonus-Renal Failure Syndrome | 1 | CTD_human |
Hgene | EPM2A | C0751780 | Biotin-Responsive Encephalopathy | 1 | CTD_human |
Hgene | EPM2A | C0751781 | Dentatorubral-Pallidoluysian Atrophy | 1 | CTD_human |
Hgene | EPM2A | C0751782 | May-White Syndrome | 1 | CTD_human |
Tgene | C1260899 | Anemia, Diamond-Blackfan | 3 | GENOMICS_ENGLAND | |
Tgene | C0575897 | Thumb deformity | 2 | GENOMICS_ENGLAND | |
Tgene | C2931850 | Aase Smith syndrome 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0008925 | Cleft Palate | 1 | GENOMICS_ENGLAND | |
Tgene | C0010093 | Corpus Luteum Cyst | 1 | CTD_human | |
Tgene | C0029927 | Ovarian Cysts | 1 | CTD_human | |
Tgene | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CGI;CTD_human | |
Tgene | C4228778 | Abnormality of radial ray | 1 | GENOMICS_ENGLAND |