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ATG3

Synonyms
APG3, APG3-LIKE, APG3L, PC3-96
External resources
Summary
This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
6
Likely pathogenic
207
VUS
4,954
Likely benign
2
Benign
0

Patient Phenotypes

Proportions of phenotypes among 210 patients carrying pathogenic or likely pathogenic variants on ATG3 gene are displayed below. The following symptoms were found in patients with a variant in ATG3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41%
Abnormality of the musculoskeletal system
28.1%
Abnormality of head or neck
27.1%
Abnormality of the eye
26.2%
Abnormality of the cardiovascular system
16.2%
Abnormality of the ear
14.8%
Growth abnormality
13.3%
Abnormality of the integument
11.4%
Abnormality of limbs
8.6%
Abnormality of the digestive system
8.6%
Abnormality of metabolism homeostasis
7.6%
Abnormality of the genitourinary system
6.2%
Abnormality of the immune system
4.8%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of prenatal development or birth
3.8%
Abnormality of the respiratory system
2.9%
Abnormality of the endocrine system
2.4%
Abnormality of the voice
1%
Constitutional symptom
1%
Neoplasm
1%
Abnormality of the breast
0.5%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%

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