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ART5

Synonyms
ARTC5
External resources
Summary
The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts 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
73
Likely pathogenic
4
VUS
610
Likely benign
49
Benign
0

Patient phenotypes

Proportions of phenotypes among 47 patients carring pathogenic or likely pathogenic variants on ART5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.3%
Abnormality of the eye
25.5%
Abnormality of the musculoskeletal system
21.3%
Abnormality of head or neck
19.1%
Abnormality of the cardiovascular system
10.6%
Abnormality of the ear
10.6%
Growth abnormality
10.6%
Abnormality of limbs
8.5%
Abnormality of the genitourinary system
6.4%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
2.1%
Abnormality of the integument
2.1%
Constitutional symptom
2.1%
Neoplasm
2.1%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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