Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

Table 2 Statistics for novel nonsynonymous singleton mutations in EFR3A

Cohorts ( n)		PhyloP ≥ 1.3^b	GERP ≥ 5^c	ConSurf < 0^d	Deleterious by crystal
Cases (2,196)	Number of mutations^a	17 (0.77%)	14 (0.64%)	12 (0.55%)	6 (0.27%)
Controls (3,389)	Number of mutations	9 (0.27%)	9 (0.27%)	8 (0.24%)	1 (0.03%)
	P ^e	0.006	0.030	0.049	0.017
	Odds ratio	2.930	2.410	2.322	9.282
	95% confidence interval	1.234–7.109	0.979–6.032	0.885–6.214	1.119–204.784

^aThe initial de novo mutation was not included in calculations of mutation burden but was in calculations involving severity.
^bPhyloP ≥ 1.3 indicates P = 0.05 for conservation.
^cGERP ≥ 5 [16].
^dConSurf < 0 indicates conservation.
^eAll P values are calculated by Fisher exact test, right-tailed. P ≤ 0.05 are in bold.
GERP, genomic evolutionary rate profiling; PhyloP, phylogenetic P values.

ISSN: 2040-2392