THAP1

Chr 8

THAP domain containing 1

Also known as: DYT6

NCBI Gene: 55145ENSG00000131931UniProt: Q9NVV9

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia 6, torsion

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.49
LOEUF
LOF
Mechanism· G2P
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GeneReview available — THAP1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.801
Z-score 2.59
OE 0.10 (0.04–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.37Z-score
OE missense 0.64 (0.53–0.78)
74 obs / 115.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.10 (0.04–0.49)
0≤0.351.4
Missense OE?0.64 (0.53–0.78)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 1 / 9.7Missense obs/exp: 74 / 115.5Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

THAP1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients