Fusion gene information | Fusion gene name: AP2B1-ACAP2 |
Fusion gene ID: hg163tg23527 | | Hgene | Tgene | Gene symbol | AP2B1 | ACAP2 | Gene ID | 163 | 23527 | Gene name | adaptor related protein complex 2 subunit beta 1 | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
Synonyms | ADTB2|AP105B|AP2-BETA|CLAPB1 | CENTB2|CNT-B2 |
Cytomap | ('AP2B1')('ACAP2') 17q12 | 3q29 |
Type of gene | protein-coding | protein-coding |
Description | AP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related prote | arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2 |
Modification date | 20200327 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000262325, ENST00000312678, ENST00000537622, ENST00000538556, ENST00000545922, ENST00000589344, ENST00000592545, | |
Fusion gene scores | * DoF score | 10 X 9 X 5=450 | 9 X 9 X 3=243 |
# samples | 9 | 10 |
** MAII score | log2(9/450*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/243*10)=-1.28095631383106 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: AP2B1 [Title/Abstract] AND ACAP2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | AP2B1(34007971)-ACAP2(195059318), # 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}. |