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IRAK3

Synonyms
ASRT5, IRAKM
External resources
Summary
This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
0
VUS
755
Likely benign
1,690
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on IRAK3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
30.8%
Abnormality of head or neck
26.9%
Abnormality of the cardiovascular system
23.1%
Abnormality of limbs
19.2%
Growth abnormality
19.2%
Abnormality of the ear
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the immune system
7.7%
Abnormality of the digestive system
3.8%
Abnormality of the endocrine system
3.8%
Abnormality of the eye
3.8%
Abnormality of the integument
3.8%
Constitutional symptom
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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