DPY30

Chr 2

dpy-30 histone methyltransferase complex regulatory subunit

Also known as: Cps25, HDPY-30, Saf19

NCBI Gene: 84661 ENSG00000162961 UniProt: Q9C005 OMIM: 612032

The protein is a core subunit of SET1/MLL histone methyltransferase complexes that methylates histone H3 at lysine 4, an epigenetic mark for transcriptional activation, and regulates cell cycle progression and hematopoietic cell differentiation. Mutations cause intellectual disability with seizures and variable dysmorphic features, following an autosomal dominant inheritance pattern. The gene shows relatively low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]

OMIM ResearchGenerating clinical summary…

LOEUF 0.98

Clinical Summary— DPY30

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.

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