THAP9

Chr 4

THAP domain containing 9

Also known as: hTh9

NCBI Gene: 79725 ENSG00000168152 UniProt: Q9H5L6 OMIM: 612537

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables sequence-specific DNA binding activity and transposase activity. Involved in DNA integration and DNA transposition. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.98

LOEUF

Mechanism· predicted