Fusion gene information | Fusion gene name: ENY2-UPF2 |
Fusion gene ID: hg56943tg26019 | | Hgene | Tgene | Gene symbol | ENY2 | UPF2 | Gene ID | 56943 | 26019 | Gene name | ENY2 transcription and export complex 2 subunit | UPF2 regulator of nonsense mediated mRNA decay |
Synonyms | DC6|Sus1|e(y)2 | HUPF2|RENT2|smg-3 |
Cytomap | ('ENY2')('UPF2') 8q23.1 | 10p14 |
Type of gene | protein-coding | protein-coding |
Description | transcription and mRNA export factor ENY2enhancer of yellow 2 homologenhancer of yellow 2 transcription factor homolog | regulator of nonsense transcripts 2FRS2/UPF2/LEMD3 fusionLEMD3/UPF2 fusionUPF2 regulator of nonsense transcripts homolognonsense mRNA reducing factor 2smg-3 homolog, nonsense mediated mRNA decay factorup-frameshift suppressor 2 homologyeast Upf2p h |
Modification date | 20200313 | 20200329 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000522407, ENST00000520147, ENST00000521662, ENST00000521688,
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Fusion gene scores | * DoF score | 7 X 5 X 3=105 | 8 X 12 X 4=384 |
# samples | 7 | 11 |
** MAII score | log2(7/105*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/384*10)=-1.8036027871965 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ENY2 [Title/Abstract] AND UPF2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ENY2(110352793)-UPF2(12077182), # samples:4
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Anticipated loss of major functional domain due to fusion event. | ENY2-UPF2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ENY2-UPF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ENY2-UPF2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ENY2-UPF2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
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Hgene | Tgene |
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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}. |