Aliases: PF1
Chromosome No: 17
Chromosome Band: 17q11.2
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 25
Associated CNVs: 3
Evidence score: 4
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Relevance to Autism
Two de novo protein-truncating variants in the PHF12 gene were identified in ASD probands from the Autism Sequencing Consortium, while an additional protein-truncating variant in this gene was observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified PHF12 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05). Two de novo variants in the PHF12 gene (one frameshift, one missense) had previously been identified in ASD probands from the Autism Genetics Resource Exchange by whole-genome sequencing in Yuen et al., 2017.
Molecular Function
Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional TLE5 complexes to DNA.
External Links
