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IRF3

Synonyms
IIAE7
External resources
Summary
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
19
Likely pathogenic
0
VUS
454
Likely benign
2,923
Benign
868

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on IRF3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.8%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
26.3%
Abnormality of limbs
26.3%
Abnormality of the eye
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the ear
15.8%
Growth abnormality
15.8%
Abnormality of the endocrine system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the integument
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
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%
Constitutional symptom
0%
Neoplasm
0%

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