Home > Gene Browser > PI4KA

PI4KA

Synonyms
PI4K-ALPHA, PIK4CA, PMGYCHA, pi4K230
External resources
Summary
This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct 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
62
Likely pathogenic
0
VUS
21,784
Likely benign
14,739
Benign
54

Patient Phenotypes

Proportions of phenotypes among 60 patients carrying pathogenic or likely pathogenic variants on PI4KA gene are displayed below. The following symptoms were found in patients with a variant in PI4KA. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the eye
23.3%
Abnormality of head or neck
21.7%
Abnormality of the ear
21.7%
Abnormality of the cardiovascular system
20%
Abnormality of the musculoskeletal system
16.7%
Growth abnormality
11.7%
Abnormality of the genitourinary system
10%
Abnormality of the integument
8.3%
Abnormality of blood and blood forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the immune system
5%
Abnormality of metabolism homeostasis
3.3%
Abnormality of prenatal development or birth
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the respiratory system
3.3%
Neoplasm
3.3%
Abnormality of the digestive system
1.7%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.