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PIK3R1

Synonyms
AGM7, GRB1, IMD36, p85, p85-ALPHA
External resources
Summary
Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four 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
6
Likely pathogenic
0
VUS
1,838
Likely benign
6,626
Benign
20

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on PIK3R1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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