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PXK

Synonyms
MONAKA, SLOB
External resources
Summary
This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants.

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
6
Likely pathogenic
38
VUS
5,808
Likely benign
313
Benign
0

Patient phenotypes

Proportions of phenotypes among 43 patients carring pathogenic or likely pathogenic variants on PXK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
46.5%
Abnormality of the nervous system
32.6%
Abnormality of the musculoskeletal system
14%
Abnormality of head or neck
11.6%
Abnormality of the genitourinary system
11.6%
Abnormality of the cardiovascular system
9.3%
Abnormality of the digestive system
7%
Neoplasm
7%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the ear
4.7%
Abnormality of the integument
4.7%
Abnormality of limbs
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
2.3%
Growth abnormality
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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