COPS7A
Chr 12COP9 signalosome subunit 7A
Also known as: CSN7, CSN7A, SGN7a
The COPS7A protein is a component of the COP9 signalosome complex, which regulates the ubiquitin conjugation pathway by controlling the activity of E3 ligase complexes and is involved in phosphorylation of key cellular proteins including p53. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies, typically presenting in early childhood. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.685), consistent with its role in essential cellular regulatory processes.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
COPS7A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools