Home > Gene Browser > RFX1

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

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
26
Likely pathogenic
0
VUS
11,384
Likely benign
613
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on RFX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.8%
Abnormality of the cardiovascular system
27.3%
Abnormality of the ear
18.2%
Abnormality of the eye
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of the genitourinary system
13.6%
Abnormality of the integument
13.6%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of the voice
4.5%
Growth abnormality
4.5%
Neoplasm
4.5%
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 thoracic cavity
0%
Constitutional symptom
0%

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