Aliases: BRL, BRPF1, BRPF2
Chromosome No: 22
Chromosome Band: 22q13.33
Genetic Category: Genetic association-Rare single gene variant-Functional
ASD Reports: 6
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
BRD1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in three independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report. A de novo missense variant and a de novo splice-region variant in this gene had previously been identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014). Variation in this gene has previously been shown to associate with schizophrenia and bipolar disorder in some study populations (Severinsen et al., 2006; Nyegaard et al., 2010).
Molecular Function
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.
External Links
