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USP45

Synonyms
LCA19
External resources
Summary
The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1.

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
146
Likely pathogenic
2
VUS
2,970
Likely benign
441
Benign
723

Patient Phenotypes

Proportions of phenotypes among 146 patients carrying pathogenic or likely pathogenic variants on USP45 gene are displayed below. The following symptoms were found in patients with a variant in USP45. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.1%
Abnormality of the musculoskeletal system
28.8%
Abnormality of head or neck
21.9%
Abnormality of the eye
17.8%
Growth abnormality
15.1%
Abnormality of the cardiovascular system
13.7%
Abnormality of the ear
13.7%
Abnormality of the integument
13%
Abnormality of metabolism homeostasis
11%
Abnormality of blood and blood forming tissues
9.6%
Abnormality of the genitourinary system
9.6%
Abnormality of the immune system
8.2%
Abnormality of limbs
7.5%
Abnormality of the digestive system
7.5%
Abnormality of the endocrine system
4.1%
Constitutional symptom
2.7%
Abnormal cellular phenotype
2.1%
Abnormality of prenatal development or birth
2.1%
Neoplasm
2.1%
Abnormality of the respiratory system
1.4%
Abnormality of the voice
0.7%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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