PHF12PHD finger protein 12
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants4 / 0
Genetic CategoryRare Single Gene Mutation
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.
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.
Reports related to PHF12 (2 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Support||Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.||C Yuen RK , et al. (2017)||Yes||-|
|2||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.||Satterstrom FK , et al. (2020)||Yes||-|
Rare Variants (4)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1162C>T||p.Gln388Ter||stop_gained||De novo||NA||Simplex||31981491||Satterstrom FK , et al. (2020)|
|c.1091dup||p.Asn365Ter||frameshift_variant||De novo||NA||Simplex||28263302||C Yuen RK , et al. (2017)|
|c.1748G>A||p.Arg583Gln||missense_variant||De novo||NA||Multiplex||28263302||C Yuen RK , et al. (2017)|
|c.1687dup||p.Arg563ProfsTer7||frameshift_variant||De novo||NA||Simplex||31981491||Satterstrom FK , et al. (2020)|
No common variants reported.
CNVs associated with PHF12(1 CNVs)
|17q11.2||22||Deletion-Duplication||36 / 98|