MBD6
Chr 12methyl-CpG binding domain protein 6
Enables chromatin binding activity. Located in chromocenter; fibrillar center; and nucleoplasm. Implicated in autism spectrum disorder. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.21
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.21LOEUF
pLI 0.999
Z-score 4.74
OE 0.07 (0.03–0.21)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
-0.74Z-score
OE missense 1.09 (1.02–1.16)
628 obs / 577.9 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.07 (0.03–0.21)
0≤0.351.4
Missense OE?1.09 (1.02–1.16)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 2 / 30.1Missense obs/exp: 628 / 577.9Syn Z: 0.20
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MBD6 · 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