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AP3S1

Synonyms
CLAPS3, Sigma3A
External resources
Summary
This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. 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
1,717
Likely pathogenic
0
VUS
4,393
Likely benign
216
Benign
0

Patient phenotypes

Proportions of phenotypes among 1660 patients carring pathogenic or likely pathogenic variants on AP3S1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the eye
28.1%
Abnormality of head or neck
20.7%
Abnormality of the ear
16.6%
Abnormality of the cardiovascular system
15.9%
Growth abnormality
12.2%
Abnormality of the integument
11.2%
Abnormality of the genitourinary system
9.2%
Abnormality of limbs
9%
Abnormality of the digestive system
6.9%
Abnormality of the immune system
5.8%
Abnormality of the endocrine system
4.6%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of the respiratory system
3.5%
Abnormality of prenatal development or birth
3.1%
Neoplasm
2.8%
Constitutional symptom
1%
Abnormality of the breast
0.5%
Abnormality of the voice
0.4%
Abnormal cellular phenotype
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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