Table 2. Overlap between ASD gene sets and FMRP targets.
Gene set | Number of genes | Expected : observed | P-value |
---|---|---|---|
Network genes | 159 | 17.3 : 48 (1 : 2.78) | 3×10−11 |
Truncating SNV genes | 108 | 11.7 : 25 (1 : 2.13) | 0.0003 |
Network non-truncating-SNV genes | 138 | 15.0 : 40 (1 : 2.67) | 4×10−9 |
Neuronal signaling/cytoskeleton cluster genes | 69 | 7.49 : 15 (1 : 2.00) | 0.01 |
Chromatin modification/regulation cluster genes | 50 | 5.43 : 17 (1 : 3.13) | 1×10−5 |
Postsynaptic density cluster genes | 11 | 1.19 : 5 (1 : 4.19) | 0.004 |
Channel activity cluster genes | 21 | 2.28 : 9 (1 : 3.95) | 0.0002 |
Non-network SNV genes | 449 | 48.8 : 40 (1 : 0.82) | 0.2 |
Sibling SNV genes | 355 | 38.6 : 47 (1 : 1.22) | 0.15 |
The expected and observed number of fragile X mental retardation protein (FMRP) targets26 among different sets of implicated genes. The expected numbers of FMRP targets were obtained based on the proportion of rare synonymous variants observed in a recent large-scale survey of human genetic variation29. The observed and expected overlaps based on another recent study of FMRP targets by Ascano et al.30 are given in Supplementary Table S5. The significances of the overlaps were established using the two-tail binomial test.