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NUP93

Synonyms
NIC96
External resources
Summary
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
33
Likely pathogenic
0
VUS
2,494
Likely benign
2,368
Benign
36

Patient phenotypes

Proportions of phenotypes among 33 patients carrying pathogenic or likely pathogenic variants on NUP93 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
42.4%
Abnormality of limbs
18.2%
Abnormality of the immune system
18.2%
Abnormality of head or neck
15.2%
Abnormality of the eye
15.2%
Abnormality of the integument
12.1%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the respiratory system
9.1%
Growth abnormality
9.1%
Abnormality of the digestive system
6.1%
Abnormality of the ear
6.1%
Constitutional symptom
6.1%
Abnormality of prenatal development or birth
3%
Abnormality of the endocrine system
3%
Abnormality of the genitourinary system
3%
Abnormality of the voice
3%
Neoplasm
3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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