CNOT8
CCR4-NOT transcription complex subunit 8, the group of CCR4-NOT transcription complex
Basic information
Region (hg38): 5:154857553-154876792
Previous symbols: [ "POP2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNOT8 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 | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 0 | 0 |
Variants in CNOT8
This is a list of pathogenic ClinVar variants found in the CNOT8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-154863330-A-G | not specified | Uncertain significance (Jun 30, 2022) | ||
| 5-154863363-G-C | not specified | Uncertain significance (Aug 28, 2024) | ||
| 5-154865225-A-G | not specified | Uncertain significance (Sep 15, 2021) | ||
| 5-154865285-C-A | not specified | Uncertain significance (Jan 20, 2023) | ||
| 5-154871780-C-G | not specified | Uncertain significance (Jul 09, 2024) | ||
| 5-154872577-C-G | not specified | Uncertain significance (Oct 04, 2022) | ||
| 5-154875290-T-C | not specified | Likely benign (Jun 17, 2024) | ||
| 5-154875393-A-C | not specified | Uncertain significance (Jul 26, 2024) | ||
| 5-154875399-A-G | not specified | Uncertain significance (May 26, 2022) | ||
| 5-154875406-C-G | not specified | Uncertain significance (Jan 08, 2024) | ||
| 5-154875414-C-T | not specified | Uncertain significance (Nov 22, 2021) | ||
| 5-154875426-A-T | not specified | Uncertain significance (Apr 13, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CNOT8 | protein_coding | protein_coding | ENST00000517876 | 6 | 19241 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.217 | 0.781 | 125732 | 0 | 12 | 125744 | 0.0000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.16 | 78 | 153 | 0.508 | 0.00000738 | 1954 |
| Missense in Polyphen | 13 | 49.195 | 0.26425 | 685 | ||
| Synonymous | 0.601 | 48 | 53.6 | 0.896 | 0.00000245 | 523 |
| Loss of Function | 2.75 | 4 | 15.8 | 0.254 | 9.20e-7 | 178 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000551 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000736 | 0.0000703 |
| Middle Eastern | 0.0000551 | 0.0000544 |
| South Asian | 0.0000829 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity. {ECO:0000269|PubMed:12771185, ECO:0000269|PubMed:19605561, ECO:0000269|PubMed:20065043, ECO:0000269|PubMed:23236473}.;
- Pathway
- RNA degradation - Homo sapiens (human);Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Metabolism of RNA;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain;TP53 Regulates Transcription of Cell Cycle Genes;Transcriptional Regulation by TP53;Deadenylation of mRNA;Deadenylation-dependent mRNA decay
(Consensus)
Recessive Scores
- pRec
- 0.156
Intolerance Scores
- loftool
- 0.419
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.655
- hipred
- Y
- hipred_score
- 0.748
- ghis
- 0.667
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.988
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cnot8
- Phenotype
Zebrafish Information Network
- Gene name
- cnot8
- Affected structure
- heart
- Phenotype tag
- abnormal
- Phenotype quality
- edematous
Gene ontology
- Biological process
- nuclear-transcribed mRNA poly(A) tail shortening;transcription, DNA-templated;regulation of transcription, DNA-templated;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;positive regulation of cell population proliferation;negative regulation of cell population proliferation;negative regulation of translation;gene silencing by miRNA;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;positive regulation of mRNA catabolic process;RNA phosphodiester bond hydrolysis, exonucleolytic
- Cellular component
- P-body;nucleus;cytosol;CCR4-NOT complex;CCR4-NOT core complex
- Molecular function
- 3'-5'-exoribonuclease activity;DNA-binding transcription factor activity;RNA binding;poly(A)-specific ribonuclease activity;protein binding;metal ion binding