Fusion gene information | Fusion gene name: ATP5C1-ATP5C1 |
Fusion gene ID: hg509tg509 | | Hgene | Tgene | Gene symbol | ATP5C1 | ATP5C1 | Gene ID | 509 | 509 | Gene name | ATP synthase F1 subunit gamma | ATP synthase F1 subunit gamma |
Synonyms | ATP5C|ATP5C1|ATP5CL1 | ATP5C|ATP5C1|ATP5CL1 |
Cytomap | ('ATP5C1')('ATP5C1') 10p14 | 10p14 |
Type of gene | protein-coding | protein-coding |
Description | ATP synthase subunit gamma, mitochondrialATP synthase gamma chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1F-ATPase gamma subunitmitochondrial ATP synthase, gamma subunit 1 | ATP synthase subunit gamma, mitochondrialATP synthase gamma chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1F-ATPase gamma subunitmitochondrial ATP synthase, gamma subunit 1 |
Modification date | 20200320 | 20200320 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000493053, ENST00000335698, ENST00000356708, ENST00000541227,
| ENST00000356708, ENST00000335698, ENST00000493053, ENST00000541227,
|
Fusion gene scores | * DoF score | 10 X 8 X 7=560 | 11 X 9 X 7=693 |
# samples | 11 | 13 |
** MAII score | log2(11/560*10)=-2.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/693*10)=-2.41434372910876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ATP5C1 [Title/Abstract] AND ATP5C1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ATP5C1(7830174)-ATP5C1(7839096), # samples:1
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Anticipated loss of major functional domain due to fusion event. | ATP5C1-ATP5C1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ATP5C1-ATP5C1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
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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}. |