CNOT3 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CNOT3 (HGNC:7879) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CCR4-NOT transcription complex subunit 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NOT3
- Alias symbols
- NOT3H, KIAA0691, LENG2
- %HI
- 49.76(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.06(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.42
- Genomic Coordinates
-
GRCh37/hg19: chr19:54641478-54659419 NCBI Ensembl UCSC GRCh38/hg38: chr19:54137762-54155681 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014516.4 ENST00000221232.11 (Read more about MANE Select)
- Function
- Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs i... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28390
ClinGen Curation ID:
CCID:006891
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/27/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
There are no publications at present describing germline CNOT3 deletions or other types of loss-of-function mutations.
De Keersmaecker et al identified CNOT3 as a tumor suppressor mutated in 7.9% of adult T-ALLs, and its knockdown caused tumors in a sensitized Drosophila melanogaster model (PMID: 23263491). Richter-PechaĆska et al. found CNOT3 mutations in pediatric T-ALL relapses (PMID: 28157215).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There are no publications at present describing germline CNOT3 duplications.
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)