Fusion gene information | Fusion gene name: ATP6V1H-CDK17 |
Fusion gene ID: hg51606tg5128 | | Hgene | Tgene | Gene symbol | ATP6V1H | CDK17 | Gene ID | 51606 | 5128 | Gene name | ATPase H+ transporting V1 subunit H | cyclin dependent kinase 17 |
Synonyms | CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13 | PCTAIRE2|PCTK2 |
Cytomap | ('ATP6V1H')('CDK17') 8q11.23 | 12q23.1 |
Type of gene | protein-coding | protein-coding |
Description | V-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton p | cyclin-dependent kinase 17PCTAIRE-motif protein kinase 2cell division protein kinase 17protein kinase cdc2-related PCTAIRE-2serine/threonine-protein kinase PCTAIRE-2 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000355221, ENST00000359530, ENST00000396774, ENST00000520188, ENST00000523899, | |
Fusion gene scores | * DoF score | 11 X 11 X 8=968 | 9 X 6 X 4=216 |
# samples | 15 | 9 |
** MAII score | log2(15/968*10)=-2.69004454677871 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ATP6V1H [Title/Abstract] AND CDK17 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ATP6V1H(54729769)-CDK17(96673166), # 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}. |