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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

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
16
Likely pathogenic
0
VUS
1,483
Likely benign
3,820
Benign
17

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on NUP93 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
31.3%
Abnormality of limbs
25%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of head or neck
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Constitutional symptom
12.5%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of the voice
6.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Growth abnormality
0%
Neoplasm
0%

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