THAP9
Chr 4THAP domain containing 9
Also known as: hTh9
THAP9 encodes an active transposase that recognizes specific DNA sequences and mediates transposition, functioning in DNA integration processes within the nucleoplasm. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.98), suggesting mutations would likely cause severe developmental disorders, though specific disease associations have not yet been established. Given the high constraint scores, pathogenic variants would likely follow an autosomal dominant inheritance pattern with early onset developmental phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
149 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 105 | 2 | 0 | 107 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 109 | 38 | 1 | 148 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
THAP9 · 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