Home > Gene Browser > BRD1
BRD1
- Synonyms
- BRL, BRPF1, BRPF2
- External resources
- NCBI23774
- OMIM604589
- EnsemblENSG00000100425
- HGNCHGNC:1102
- Summary
- This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. 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
- 15
- Likely pathogenic
- 0
- VUS
- 5,853
- Likely benign
- 1,378
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on BRD1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 46.7%
- Abnormality of the musculoskeletal system
- 40%
- Growth abnormality
- 33.3%
- Abnormality of limbs
- 26.7%
- Abnormality of the cardiovascular system
- 20%
- Abnormality of head or neck
- 13.3%
- Abnormality of the ear
- 13.3%
- Abnormality of the genitourinary system
- 13.3%
- Abnormality of the endocrine system
- 6.7%
- Abnormality of the eye
- 6.7%
- 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 digestive system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the integument
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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