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RFX1

Synonyms
EFC, RFX
External resources
Summary
This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE).

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
47
Likely pathogenic
1
VUS
30,439
Likely benign
3,236
Benign
0

Patient phenotypes

Proportions of phenotypes among 44 patients carrying pathogenic or likely pathogenic variants on RFX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
34.1%
Abnormality of the genitourinary system
18.2%
Abnormality of the musculoskeletal system
15.9%
Abnormality of the ear
13.6%
Abnormality of the integument
11.4%
Abnormality of head or neck
9.1%
Abnormality of the eye
9.1%
Abnormality of limbs
6.8%
Abnormality of the digestive system
6.8%
Abnormality of the endocrine system
6.8%
Abnormality of the immune system
6.8%
Abnormality of the respiratory system
6.8%
Neoplasm
6.8%
Growth abnormality
4.5%
Abnormality of blood and blood-forming tissues
2.3%
Abnormality of the voice
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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