CCT8

chaperonin containing TCP1 subunit 8, the group of Chaperonins

Basic information

Region (hg38): 21:29055805-29073797

Previous symbols: [ "C21orf112" ]

Links

ENSG00000156261 ∙ NCBI:10694 ∙ OMIM:617786 ∙ HGNC:1623 ∙ Uniprot:P50990 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCT8 gene.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			30		1	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	1

Variants in CCT8

This is a list of pathogenic ClinVar variants found in the CCT8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-29056519-G-A		not specified	Uncertain significance (Aug 10, 2021)
21-29061274-T-A		not specified	Uncertain significance (Feb 06, 2024)
21-29061330-C-T		not specified	Uncertain significance (May 31, 2023)
21-29061350-G-A		not specified	Uncertain significance (Sep 22, 2023)
21-29061351-C-T		not specified	Uncertain significance (Feb 01, 2023)
21-29061362-G-A		not specified	Uncertain significance (Jan 09, 2024)
21-29061555-C-T			Benign (May 18, 2018)
21-29061566-T-A		not specified	Uncertain significance (Mar 03, 2022)
21-29062130-T-C		not specified	Uncertain significance (Apr 25, 2023)
21-29062213-A-C		not specified	Uncertain significance (Feb 16, 2023)
21-29062506-G-A		not specified	Uncertain significance (Jul 12, 2022)
21-29062522-T-C		not specified	Uncertain significance (Dec 16, 2023)
21-29063356-C-T		not specified	Uncertain significance (Jan 31, 2022)
21-29063422-C-T		not specified	Likely benign (Apr 16, 2024)
21-29063433-C-A		not specified	Uncertain significance (Feb 12, 2024)
21-29065036-T-C		not specified	Uncertain significance (Sep 29, 2022)
21-29065081-C-A		not specified	Uncertain significance (Feb 02, 2022)
21-29066775-A-G		not specified	Uncertain significance (Oct 13, 2023)
21-29066908-A-G		not specified	Uncertain significance (Sep 12, 2023)
21-29066979-A-T		not specified	Uncertain significance (Nov 22, 2021)
21-29066983-A-G		not specified	Uncertain significance (Feb 26, 2024)
21-29067011-A-G		not specified	Uncertain significance (Dec 27, 2022)
21-29067631-G-C		not specified	Uncertain significance (May 15, 2024)
21-29067635-G-A		not specified	Uncertain significance (Oct 03, 2022)
21-29069443-T-C		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

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: dbNSFP

• 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_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

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