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BRD7

Synonyms
BP75, CELTIX1, NAG4, SMARCI1
External resources
Summary
This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants.

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
8
Likely pathogenic
1,596
VUS
14,240
Likely benign
2,167
Benign
0

Patient phenotypes

Proportions of phenotypes among 1604 patients carrying pathogenic or likely pathogenic variants on BRD7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
26.8%
Abnormality of the eye
23.3%
Abnormality of head or neck
21.4%
Abnormality of the cardiovascular system
19.6%
Abnormality of the ear
14.2%
Abnormality of the integument
11.8%
Growth abnormality
11.6%
Abnormality of limbs
10.5%
Abnormality of the genitourinary system
10.4%
Abnormality of the digestive system
7.9%
Abnormality of the immune system
6.8%
Abnormality of the endocrine system
4.6%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the respiratory system
4%
Abnormality of prenatal development or birth
3.1%
Neoplasm
2.7%
Constitutional symptom
1.6%
Abnormality of the breast
0.8%
Abnormality of the voice
0.7%
Abnormal cellular phenotype
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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