THAP1 Chromosome 8
THAP domain containing 1
Upload your DNA to see your personal genotypes for variants in THAP1.
What This Gene Does
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]
Gene Info
Gene Group
THAP domain family
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000131931
Associated Conditions (3)
Torsion dystonia 6
Inborn genetic diseases
Dystonic disorder
Key Variants
RS1327871725
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS140694378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Torsion dystonia 6, Inborn genetic diseases
Health Risk
RS1478723907
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS1586459413
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS1802651118
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS2487042279
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS267607111
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS372080941
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS373843959
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS377725442
Conflicting classifications of pathogenicity
Torsion dystonia 6, Torsion dystonia 6
Health Risk
RS756694303
Conflicting classifications of pathogenicity
Torsion dystonia 6, Inborn genetic diseases, Torsion dystonia 6
Health Risk
RS761376417
Conflicting classifications of pathogenicity
Torsion dystonia 6, Inborn genetic diseases, Torsion dystonia 6
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1327871725 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS140694378 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Torsion dystonia 6, Inborn genetic diseases |
| RS1478723907 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586459413 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS1802651118 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487042279 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS267607111 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS372080941 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS373843959 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS377725442 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Torsion dystonia 6 |
| RS756694303 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Inborn genetic diseases, Torsion dystonia 6 |
| RS761376417 | Health Risk | Conflicting classifications of pathogenicity | Torsion dystonia 6, Inborn genetic diseases, Torsion dystonia 6 |
| RS1064797344 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586459408 | Health Risk | Likely pathogenic | Dystonic disorder, Dystonic disorder |
| RS1802650847 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1802654414 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487030414 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487042104 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS267607112 | Health Risk | Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6, Torsion dystonia 6 |
| RS767952378 | Health Risk | Likely pathogenic | Torsion dystonia 6, Inborn genetic diseases, Torsion dystonia 6 |
| RS1554599616 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1554599712 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1554599983 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1563644456 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1563646198 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586456278 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586456293 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586456350 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586456404 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586457060 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1586457084 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1752065573 | Health Risk | Pathogenic | — |
| RS1802672249 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1802756440 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918456 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918637 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2128919290 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487030539 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487030586 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487030639 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS387907176 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS387907177 | Health Risk | Pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1131691345 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1563644810 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS1802674870 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918440 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2128918641 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487027092 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS2487042330 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |
| RS749414480 | Health Risk | Pathogenic/Likely pathogenic | Torsion dystonia 6, Torsion dystonia 6 |