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ART3

Synonyms
ARTC3
External resources
Summary
This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. Multiple transcript variants encoding different 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
13
Likely pathogenic
0
VUS
2,055
Likely benign
417
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on ART3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Abnormality of head or neck
46.2%
Abnormality of the ear
30.8%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the eye
23.1%
Abnormality of the digestive system
15.4%
Growth abnormality
15.4%
Abnormality of limbs
7.7%
Abnormality of the integument
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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