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NOL7

Synonyms
C6orf90, PQBP3, RARG-1, dJ223E5.2
External resources
Summary
The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein 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
49
Likely pathogenic
0
VUS
2,532
Likely benign
92
Benign
0

Patient phenotypes

Proportions of phenotypes among 49 patients carring pathogenic or likely pathogenic variants on NOL7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.7%
Abnormality of the musculoskeletal system
30.6%
Abnormality of head or neck
24.5%
Abnormality of the ear
20.4%
Abnormality of the cardiovascular system
18.4%
Growth abnormality
14.3%
Abnormality of the genitourinary system
12.2%
Abnormality of the digestive system
10.2%
Abnormality of limbs
8.2%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the eye
6.1%
Abnormality of the integument
6.1%
Abnormality of the respiratory system
6.1%
Abnormality of the immune system
4.1%
Neoplasm
4.1%
Abnormality of prenatal development or birth
2%
Abnormality of the endocrine system
2%
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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