Home > Gene Browser > PIK3R6

PIK3R6

Synonyms
C17orf38, HsT41028, p84 PIKAP, p87(PIKAP), p87PIKAP
External resources
Summary
Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. 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
58
Likely pathogenic
7
VUS
6,898
Likely benign
851
Benign
0

Patient phenotypes

Proportions of phenotypes among 60 patients carring pathogenic or likely pathogenic variants on PIK3R6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35%
Abnormality of the nervous system
31.7%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
20%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
11.7%
Growth abnormality
11.7%
Abnormality of limbs
10%
Abnormality of the digestive system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the integument
5%
Abnormality of the respiratory system
5%
Abnormality of prenatal development or birth
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the immune system
3.3%
Abnormality of blood and blood-forming tissues
1.7%
Abnormality of the breast
1.7%
Constitutional symptom
1.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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