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USP4

Synonyms
UNP, Unph
External resources
Summary
The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants 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
42
Likely pathogenic
20
VUS
4,744
Likely benign
954
Benign
0

Patient Phenotypes

Proportions of phenotypes among 62 patients carrying pathogenic or likely pathogenic variants on USP4 gene are displayed below. The following symptoms were found in patients with a variant in USP4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.1%
Abnormality of the musculoskeletal system
19.4%
Abnormality of head or neck
14.5%
Abnormality of the ear
14.5%
Abnormality of the eye
14.5%
Abnormality of metabolism homeostasis
12.9%
Abnormality of the cardiovascular system
12.9%
Growth abnormality
12.9%
Abnormality of the genitourinary system
8.1%
Abnormality of the immune system
8.1%
Abnormality of prenatal development or birth
6.5%
Abnormality of the digestive system
6.5%
Constitutional symptom
4.8%
Abnormal cellular phenotype
1.6%
Abnormality of blood and blood forming tissues
1.6%
Abnormality of limbs
1.6%
Abnormality of the integument
1.6%
Abnormality of the respiratory system
1.6%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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