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RAD17

Synonyms
CCYC, HRAD17, R24L, RAD17SP, RAD24
External resources
Summary
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified.

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
19
Likely pathogenic
0
VUS
7,693
Likely benign
1,606
Benign
0

Patient Phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on RAD17 gene are displayed below. The following symptoms were found in patients with a variant in RAD17. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the eye
21.1%
Abnormality of head or neck
15.8%
Abnormality of the digestive system
15.8%
Abnormality of the genitourinary system
15.8%
Abnormality of limbs
10.5%
Abnormality of the cardiovascular system
10.5%
Abnormality of the ear
10.5%
Constitutional symptom
10.5%
Growth abnormality
10.5%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of metabolism homeostasis
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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%
Neoplasm
0%

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