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ATG5

Synonyms
APG5, APG5-LIKE, APG5L, ASP, SCAR25, hAPG5
External resources
Summary
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
416
Likely benign
290
Benign
379

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ATG5 gene.

Phenotype class
Patients in 3billion (%)

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