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STAT1

Synonyms
CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91
External resources
Summary
The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described.

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
3
Likely pathogenic
2
VUS
3,415
Likely benign
6,611
Benign
465

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on STAT1 gene are displayed below. The following symptoms were found in patients with a variant in STAT1. However, patients may have been diagnosed with a different variant.

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

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