BRINP1
Chr 9BMP/retinoic acid inducible neural specific 1
Also known as: DBC1, DBCCR1, FAM5A
The BRINP1 protein suppresses cell cycle progression in postmitotic neurons by inhibiting G1/S transition and plays a role in neurogenesis and brain development. Loss-of-function mutations cause autosomal dominant neurodevelopmental disorders, as evidenced by the gene's extreme intolerance to loss-of-function variants. The pathogenic mechanism involves haploinsufficiency disrupting normal neuronal cell cycle control and brain development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BRINP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools