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BRD7

Synonyms
BP75, CELTIX1, NAG4
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

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
5
Likely pathogenic
906
VUS
6,061
Likely benign
190
Benign
0

Patient phenotypes

Proportions of phenotypes among 911 patients carring pathogenic or likely pathogenic variants on BRD7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.1%
Abnormality of the eye
29.4%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
23.8%
Abnormality of the ear
17.9%
Abnormality of the cardiovascular system
15.4%
Growth abnormality
12.3%
Abnormality of the integument
10.5%
Abnormality of limbs
9%
Abnormality of the genitourinary system
9%
Abnormality of the digestive system
6.5%
Abnormality of the immune system
5.9%
Abnormality of the endocrine system
4.2%
Abnormality of the respiratory system
3.5%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of prenatal development or birth
3.4%
Neoplasm
2.3%
Constitutional symptom
1.3%
Abnormality of the breast
1%
Abnormality of the voice
0.8%
Abnormal cellular phenotype
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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