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. 2013 Aug 15;9(8):e1003671. doi: 10.1371/journal.pgen.1003671

Table 1. Top predicted ASD risk genes from the TADA analysis of combined ASD data (de novo, inherited and case-control).

Loss of function (LoF)
Gene De novo Transmitted Nontransmitted Case Control p dn p TADA(LoF)
KATNAL2 2 1 0 4 0 3.1×10−6 2×10−7
CHD8 2 0 0 3 0 9.5×10−5 2.4×10−6
LMCD1 0 2 0 0 0 1 0.067
S100G 1 0 0 3 0 0.00042 1.6×10−5
DYRK1A 2 0 0 0 0 8.6×10−6 4.3×10−6
PPM1D 1 0 0 2 0 0.0032 0.00023
SCN2A 2 0 0 0 0 5.9×10−5 2.8×10−5
CUL3 1 0 0 3 0 0.004 0.00013
DEAF1 0 2 0 1 0 1 0.031
BANK1 0 1 0 4 0 1 0.0064
POGZ 2 0 0 0 0 3×10−5 1.4×10−5
WDR55 0 1 0 0 0 1 0.18
FAM91A1 1 0 0 0 0 0.0046 0.0019
COL25A1 1 0 0 5 0 0.0034 2.3×10−5

The Inline graphic column shows the p-values using the De Novo Test from the de novo LoF mutations alone. The Inline graphic column shows the p-values from the TADA test using all LoF data. The Inline graphic column shows the p-values from the TADA test using both LoF and Mis3 data. The star symbols mark the double-hit genes that were reported in earlier publications. C1orf95 also has q-value<.2, however this signal is based entirely on 11 identical Mis3 variants in cases and 0 in controls. This allele is common in African populations [40]. While the AASC sample is of European ancestry, a portion of it, largely from Portugal, carries some sub-Saharan alleles [7]. Thus, this signal is likely due to population substructure. Similarly, the 3 LoF variants seen in S100G are copies of a splice variant that is common in African populations, so this result should be viewed with caution.