Home > Gene Browser > CHFR

CHFR

Synonyms
RNF116, RNF196
External resources
Summary
This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein 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
4
Likely pathogenic
0
VUS
12,499
Likely benign
408
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on CHFR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
75%
Abnormality of the musculoskeletal system
75%
Abnormality of the nervous system
75%
Abnormality of the ear
50%
Abnormality of the genitourinary system
50%
Abnormality of prenatal development or birth
25%
Abnormality of the cardiovascular system
25%
Abnormality of the endocrine system
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes