Fusion gene information | Fusion gene name: ADAMTSL1-PPP2R5A |
Fusion gene ID: hg92949tg5525 | | Hgene | Tgene | Gene symbol | ADAMTSL1 | PPP2R5A | Gene ID | 92949 | 5525 | Gene name | ADAMTS like 1 | protein phosphatase 2 regulatory subunit B'alpha |
Synonyms | ADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN | B56A|B56alpha|PR61A |
Cytomap | ('ADAMTSL1')('PPP2R5A') 9p22.2-p22.1 | 1q32.3 |
Type of gene | protein-coding | protein-coding |
Description | ADAMTS-like protein 1ADAM-TS related protein 1punctin-1 | serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoformPP2A B subunit isoform B'-alphaPP2A B subunit isoform B56-alphaPP2A B subunit isoform PR61-alphaPP2A B subunit isoform R5-alphaPP2A, B subunit, B' alpha isoformPP2A, B su |
Modification date | 20200320 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000276935, ENST00000327883, ENST00000380545, ENST00000380548, ENST00000380566, ENST00000380570, ENST00000431052, ENST00000496521,
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Fusion gene scores | * DoF score | 14 X 14 X 3=588 | 7 X 7 X 5=245 |
# samples | 14 | 10 |
** MAII score | log2(14/588*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/245*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ADAMTSL1 [Title/Abstract] AND PPP2R5A [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ADAMTSL1(18710693)-PPP2R5A(212535195), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
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}. |