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XPC

Synonyms
RAD4, XP3, XPCC, p125
External resources
Summary
The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene.

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
31
Likely pathogenic
0
VUS
4,172
Likely benign
8,159
Benign
223

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on XPC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the integument
36.7%
Abnormality of head or neck
30%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Growth abnormality
20%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of limbs
10%
Abnormality of the endocrine system
6.7%
Abnormality of the digestive system
3.3%
Neoplasm
3.3%
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 immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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