CCT8
chaperonin containing TCP1 subunit 8, the group of Chaperonins
Basic information
Region (hg38): 21:29055805-29073797
Previous symbols: [ "C21orf112" ]
Links
Phenotypes
GenCC
Source:
- neurodevelopmental disorder (Limited), mode of inheritance: AD
- complex neurodevelopmental disorder (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (64 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCT8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006585.4. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 62 | 65 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 63 | 2 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CCT8 | protein_coding | protein_coding | ENST00000286788 | 15 | 17993 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.963 | 0.0375 | 125723 | 0 | 8 | 125731 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.07 | 235 | 286 | 0.822 | 0.0000140 | 3580 |
| Missense in Polyphen | 43 | 91.16 | 0.4717 | 1208 | ||
| Synonymous | 0.333 | 93 | 97.2 | 0.957 | 0.00000503 | 1059 |
| Loss of Function | 4.19 | 4 | 27.9 | 0.144 | 0.00000139 | 364 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000585 | 0.0000585 |
| Ashkenazi Jewish | 0.000100 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000270 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000736 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:25467444, ECO:0000305}.;
- Pathway
- Neutrophil degranulation;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Metabolism of proteins;Chaperonin-mediated protein folding;TCR;Formation of tubulin folding intermediates by CCT/TriC;Innate Immune System;Immune System;Association of TriC/CCT with target proteins during biosynthesis;Protein folding;Prefoldin mediated transfer of substrate to CCT/TriC;Folding of actin by CCT/TriC;Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding;BBSome-mediated cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.476
Intolerance Scores
- loftool
- 0.143
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 36.07
Haploinsufficiency Scores
- pHI
- 0.896
- hipred
- Y
- hipred_score
- 0.831
- ghis
- 0.678
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.892
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cct8
- Phenotype
Zebrafish Information Network
- Gene name
- cct8
- Affected structure
- skeletal muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- protein folding;binding of sperm to zona pellucida;positive regulation of telomere maintenance via telomerase;neutrophil degranulation;pore complex assembly;protein stabilization;toxin transport;positive regulation of establishment of protein localization to telomere;positive regulation of protein localization to Cajal body;positive regulation of telomerase RNA localization to Cajal body
- Cellular component
- zona pellucida receptor complex;extracellular region;nucleoplasm;cytoplasm;centrosome;cytosol;chaperonin-containing T-complex;microtubule;cilium;secretory granule lumen;azurophil granule lumen;cell body;intermediate filament cytoskeleton;extracellular exosome;ficolin-1-rich granule lumen
- Molecular function
- protein binding;ATP binding;ATPase activity, coupled;cadherin binding;unfolded protein binding