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ATR

Synonyms
FCTCS, FRP1, MEC1, SCKL, SCKL1
External resources
Summary
The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
133
Likely pathogenic
0
VUS
14,176
Likely benign
13,550
Benign
7,371

Patient phenotypes

Proportions of phenotypes among 133 patients carrying pathogenic or likely pathogenic variants on ATR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.6%
Abnormality of the musculoskeletal system
33.8%
Abnormality of head or neck
24.1%
Abnormality of the eye
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of limbs
15%
Growth abnormality
11.3%
Abnormality of the integument
9.8%
Abnormality of the digestive system
9%
Abnormality of the ear
8.3%
Abnormality of the genitourinary system
6%
Abnormality of the immune system
6%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
3%
Abnormality of the respiratory system
3%
Constitutional symptom
2.3%
Abnormal cellular phenotype
1.5%
Abnormality of the endocrine system
0.8%
Abnormality of the voice
0.8%
Neoplasm
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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