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. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: Nat Genet. 2014 Aug 3;46(9):944–950. doi: 10.1038/ng.3050

Table 2.

Individually significant genes identified from the analysis of de novo mutations in ASD cases. Genes with multiple loss-of-function (LoF) de novo mutations across 1,078 ASD cases. LoF mutations include nonsense, frameshift, and splice site-disrupting mutations. “# LoF Expected” refers to the expected number of de novo LoF mutations based on the probability of mutation for the gene as determined by our model. The genome-wide significance threshold is 1×10−6

Gene Mutations # LoF Observed # LoF Expected p-value
DYRK1A nonsense, splice, frameshift 3 0.0072 6.15E-08
SCN2A nonsense, nonsense, frameshift 3 0.0178 9.20E-07
CHD8 nonsense, splice, frameshift 3 0.0221 1.76E-06
KATNAL2 splice, splice 2 0.0049 1.19E-05
POGZ frameshift, frameshift 2 0.0133 8.93E-05
ARID1B frameshift, frameshift 2 0.0178 1.57E-04