Fusion gene information | Fusion gene name: CCT5-CDIPT |
Fusion gene ID: hg22948tg10423 | | Hgene | Tgene | Gene symbol | CCT5 | CDIPT | Gene ID | 22948 | 10423 | Gene name | chaperonin containing TCP1 subunit 5 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
Synonyms | CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon | PIS|PIS1 |
Cytomap | ('CCT5')('CDIPT') 5p15.2 | 16p11.2 |
Type of gene | protein-coding | protein-coding |
Description | T-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69 | CDP-diacylglycerol--inositol 3-phosphatidyltransferasePI synthasePtdIns synthasephosphatidylinositol synthase |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000280326, ENST00000503026, ENST00000506600, ENST00000515390, ENST00000515676, | |
Fusion gene scores | * DoF score | 6 X 9 X 5=270 | 6 X 5 X 1=30 |
# samples | 9 | 6 |
** MAII score | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 |
Context | PubMed: CCT5 [Title/Abstract] AND CDIPT [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | CCT5(10263376)-CDIPT(29870570), # samples:1
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Anticipated loss of major functional domain due to fusion event. | CCT5-CDIPT seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CCT5-CDIPT seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CCT5-CDIPT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CCT5-CDIPT 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 |
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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}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CCT5 | C1850395 | Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | CCT5 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | CCT5 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | CCT5 | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | CCT5 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Hgene | CCT5 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | CCT5 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | CCT5 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | CCT5 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | CCT5 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | CCT5 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | CCT5 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | CCT5 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | CCT5 | C4505456 | HIV Coinfection | 1 | CTD_human |
Hgene | CCT5 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |