Fig. 2: Overview of gene ontology (GO)-annotated molecular functions of the 43 genes with pathogenic variants.

A–N indicate different GO functions: A metal ion binding; B nucleotide binding; C metal ion and nucleotide binding; D chromatin binding; E metal ion and chromatin binding; F chromatin and polymerase II activating transcription factor binding; G metal ion, chromatin/DNA binding, and transcription activator; H chromatin/DNA binding and transcription activator; I metal ion, DNA binding, and transcription activator; J metal ion, DNA and RNA polymerase II activating transcription factor binding, and transcription activator; K metal ion binding and helicase activity; L helicase activity; M metal ion binding and cytoskeletal protein binding; N cytoskeletal protein binding.