Aliases: C15orf1, HPPCn, I1PP2A, LANP, MAPM, PHAP1, PHAPI, PP32
Chromosome No: 15
Chromosome Band: 15q23
Genetic Category: Functional-Rare single gene variant
ASD Reports: 4
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 6
Evidence score: 3
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Relevance to Autism
Two de novo loss-of-function (LoF) variants in the ANP32A gene have been identified in ASD probands from the Simons Simplex Collection and the MSSNG cohort (Satterstrom et al., 2020; Zhou et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified ANP32A as an ASD-associated gene with a false discovery rate (FDR) < 0.1.
Molecular Function
Multifunctional protein that is involved in the regulation of many processes including tumor suppression, apoptosis, cell cycle progression or transcription. Inhibits the histone-acetyltranferase activity of EP300/CREBBP (CREB-binding protein) and EP300/CREBBP-associated factor by histone masking (Seo et al., 2002).
External Links
