ADGRB1
Chr 8adhesion G protein-coupled receptor B1
Also known as: BAI1, GDAIF
ADGRB1 encodes a phosphatidylserine receptor that functions in apoptotic cell clearance, synaptic plasticity regulation, dendritic spine formation, and angiogenesis inhibition in the brain. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities. This gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.14), indicating that haploinsufficiency is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
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
ADGRB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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