YTHDC1
Chr 4YTH N6-methyladenosine RNA binding protein C1
The YTHDC1 protein recognizes and binds N6-methyladenosine (m6A)-modified RNAs to regulate alternative splicing by controlling recruitment of splicing factors and facilitating nuclear export of modified mRNAs. Mutations cause autosomal dominant intellectual disability with variable features that may include developmental delay and other neurodevelopmental phenotypes. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.094), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
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
YTHDC1 · 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