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NSUN5

Synonyms
NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)
External resources
Summary
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
57
Likely pathogenic
0
VUS
3,935
Likely benign
60
Benign
0

Patient phenotypes

Proportions of phenotypes among 57 patients carring pathogenic or likely pathogenic variants on NSUN5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.1%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
21.1%
Growth abnormality
17.5%
Abnormality of the eye
15.8%
Abnormality of the ear
14%
Abnormality of the genitourinary system
10.5%
Abnormality of the cardiovascular system
8.8%
Abnormality of the immune system
8.8%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
5.3%
Abnormality of limbs
3.5%
Abnormality of prenatal development or birth
3.5%
Abnormality of the endocrine system
3.5%
Abnormality of the integument
3.5%
Abnormality of the respiratory system
1.8%
Neoplasm
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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