THAP6

Chr 4

THAP domain containing 6

Predicted to enable DNA-binding transcription factor activity; sequence-specific DNA binding activity; and zinc ion binding activity. Predicted to be involved in endothelial cell proliferation and regulation of DNA-templated transcription. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.33
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.001
Z-score 0.89
OE 0.68 (0.371.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.35Z-score
OE missense 0.91 (0.781.07)
109 obs / 119.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.371.33)
00.351.4
Missense OE?0.91 (0.781.07)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 6 / 8.8Missense obs/exp: 109 / 119.8Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

THAP6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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