Table 5 Summary of single-nucleotide variants included in the allelic pleiotropy de novo analysis.

From: Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

Phenotype

N trios

Total DNVs (PTVs, miss, syn)

Unique DNVs (PTVs, miss, syn)

Schizophrenia

3444

3208 (186, 2197, 285)

3207 (186, 2197, 824)

DD14

31,058

40,818 (3,638, 28,193, 8,987)

39,560 (3400, 27,211, 8949)

ASD32

6430

7337 (516, 4954, 1867)

7306 (514, 4934, 1858)

NDD (ASD + DD)

37,488

48,155 (4154, 33,147, 10,854)

46,772 (3900, 32,076, 10,796)

  1. The ‘N DNVs’ column shows the total number of de novo missense, synonymous, stop-gain, splice-donor or splice-acceptor variants reported in the respective phenotype after excluding variants on the Y chromosome or in mitochondrial DNA. The Unique DNVs column shows the number of de novo variants observed in the respective phenotype after excluding duplicate variants. DNV de novo variant, PTV protein truncating variant, miss missense variant, syn synonymous variant, DD developmental disorder, NDD neurodevelopmental disorder (ASD + DD).
Back to article page