THOC1
Chr 18ADTHO complex subunit 1
Also known as: DFNA86, HPR1, P84, P84N5
The THOC1 protein is a component of the THO complex that couples mRNA transcription, processing and nuclear export, and is required for efficient export of polyadenylated RNA from the nucleus to the cytoplasm. Mutations cause autosomal dominant nonsyndromic deafness 86, which affects hearing without other systemic features. THOC1 is highly constrained against loss-of-function variants, indicating that such variants are likely to be pathogenic when they occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
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
THOC1 · 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