Fusion gene information | Fusion gene name: COPS7A-GRINA |
Fusion gene ID: hg50813tg2907 | | Hgene | Tgene | Gene symbol | COPS7A | GRINA | Gene ID | 50813 | 2907 | Gene name | COP9 signalosome subunit 7A | glutamate ionotropic receptor NMDA type subunit associated protein 1 |
Synonyms | CSN7|CSN7A|SGN7a | HNRGW|LFG1|NMDARA1|TMBIM3 |
Cytomap | ('COPS7A')('GRINA') 12p13.31 | 8q24.3 |
Type of gene | protein-coding | protein-coding |
Description | COP9 signalosome complex subunit 7aCOP9 complex subunit 7aCOP9 constitutive photomorphogenic homolog subunit 7AJAB1-containing signalosome subunit 7adermal papilla-derived protein 10 | protein lifeguard 1NMDA receptor glutamate-binding subunitglutamate [NMDA] receptor-associated protein 1glutamate receptor, NMDA subtype, glutamate-binding subunitglutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate bin |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000542150, ENST00000543155, ENST00000229251, ENST00000534877, ENST00000534947, ENST00000538410, ENST00000539735, | |
Fusion gene scores | * DoF score | 8 X 5 X 6=240 | 8 X 10 X 5=400 |
# samples | 7 | 10 |
** MAII score | log2(7/240*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: COPS7A [Title/Abstract] AND GRINA [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | COPS7A(6833222)-GRINA(145064276), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
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}. |