Fusion gene information | Fusion gene name: AHRR-AHRR |
Fusion gene ID: hg57491tg57491 | | Hgene | Tgene | Gene symbol | AHRR | AHRR | Gene ID | 57491 | 57491 | Gene name | aryl-hydrocarbon receptor repressor | aryl-hydrocarbon receptor repressor |
Synonyms | AHH|AHHR|bHLHe77 | AHH|AHHR|bHLHe77 |
Cytomap | ('AHRR')('AHRR') 5p15.33 | 5p15.33 |
Type of gene | protein-coding | protein-coding |
Description | aryl hydrocarbon receptor repressorahR repressoraryl hydrocarbon hydroxylase regulatorclass E basic helix-loop-helix protein 77dioxin receptor repressor | aryl hydrocarbon receptor repressorahR repressoraryl hydrocarbon hydroxylase regulatorclass E basic helix-loop-helix protein 77dioxin receptor repressor |
Modification date | 20200322 | 20200322 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000316418, ENST00000505113, ENST00000506456, ENST00000512529, ENST00000515206, | ENST00000506456, ENST00000515206, ENST00000316418, ENST00000505113, ENST00000512529,
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Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 7 X 6 X 4=168 |
# samples | 7 | 9 |
** MAII score | log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/168*10)=-0.900464326449086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: AHRR [Title/Abstract] AND AHRR [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | AHRR(427981)-AHRR(428033), # samples:1 AHRR(314810)-AHRR(314775), # samples:1
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Anticipated loss of major functional domain due to fusion event. | AHRR-AHRR seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. AHRR-AHRR seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. AHRR-AHRR seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. AHRR-AHRR seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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}. |