ASXL3
Chr 18ADASXL transcriptional regulator 3
Also known as: BRPS, KIAA1713
The protein contains a PHD zinc finger domain and regulates gene transcription by binding to and inhibiting nuclear hormone receptors LXRalpha and TRbeta, and may also inhibit histone deubiquitination. Mutations cause Bainbridge-Ropers syndrome, an autosomal dominant condition characterized by feeding difficulties and developmental delay. The gene is highly intolerant to loss-of-function variants, and mutations predominantly cause disease through haploinsufficiency.
Definitive — sufficient evidence for diagnostic panels
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).
Literature Evidence
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
ASXL3 · 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
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGPersonalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation
ACTIVE NOT RECRUITINGASXL-Related Disorders Natural History Study
RECRUITINGExternal Resources
Links to major genomics databases and tools