BICRA

Chr 19

BRD4 interacting chromatin remodeling complex associated protein

Also known as: CSS12, GLTSCR1, SMARCK1

NCBI Gene: 29998 ENSG00000063169 UniProt: Q9NZM4

The BICRA protein is a component of the SWI/SNF chromatin remodeling complex that alters DNA-histone contacts within nucleosomes in an ATP-dependent manner to regulate gene transcription. Mutations cause Coffin-Siris syndrome 12, a neurodevelopmental disorder with intellectual disability and distinctive facial features, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.98), indicating that most pathogenic variants are likely de novo mutations.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Enables transcription regulator activator activity. Involved in positive regulation of DNA-templated transcription. Located in nucleus. Part of SWI/SNF complex. Implicated in Coffin-Siris syndrome 12. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCoffin-Siris syndrome 12

Clinical highlights

Gene-disease validity (ClinGen)

Coffin-Siris syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — BICRA