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NUP107

Synonyms
NPHS11, NUP84, ODG6, ODG6; GAMOS7
External resources
Summary
This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

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
35
Likely pathogenic
0
VUS
13,947
Likely benign
4,119
Benign
438

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on NUP107 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
37.1%
Abnormality of the nervous system
37.1%
Abnormality of head or neck
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of limbs
11.4%
Abnormality of the cardiovascular system
11.4%
Abnormality of the ear
11.4%
Growth abnormality
11.4%
Abnormality of the eye
8.6%
Abnormality of the immune system
8.6%
Abnormality of the integument
8.6%
Abnormality of blood and blood-forming tissues
5.7%
Abnormality of the digestive system
5.7%
Abnormality of prenatal development or birth
2.9%
Constitutional symptom
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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