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BICRA

Chr 19q13.33

BRD4 interacting chromatin remodeling complex associated protein

Aliases:
SMARCK1
MANE:
ENST00000594866.3

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Coffin-Siris syndrome 12

    0.71
  • Coffin-Siris syndrome

    0.37
  • Intellectual disability

    0.33
  • arthritic joint disease

    0.26
  • atrial fibrillation

    0.26
  • smoking initiation

    0.25
  • placental abruption

    0.20
  • poisoning

    0.20
  • androgenetic alopecia

    0.17
  • atrial flutter

    0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BRD4-interacting chromatin-remodeling complex-associated protein

Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058). May play a role in BRD4-mediated gene transcription (PubMed:21555454)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.