Home > Gene Browser > BRD3

BRD3

Synonyms
ORFX, RING3L
External resources
Summary
This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known.

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
382
Likely pathogenic
0
VUS
4,665
Likely benign
207
Benign
0

Patient phenotypes

Proportions of phenotypes among 381 patients carring pathogenic or likely pathogenic variants on BRD3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the cardiovascular system
31.5%
Abnormality of the musculoskeletal system
26.5%
Abnormality of the eye
23.1%
Abnormality of head or neck
22.8%
Abnormality of the ear
13.1%
Abnormality of limbs
12.6%
Abnormality of the integument
10.5%
Growth abnormality
10.2%
Abnormality of the genitourinary system
9.2%
Abnormality of the digestive system
8.9%
Abnormality of the immune system
5.8%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
4.5%
Neoplasm
3.1%
Abnormality of prenatal development or birth
2.9%
Abnormality of blood and blood-forming tissues
2.1%
Constitutional symptom
1.3%
Abnormality of the voice
1%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

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