Extended Data Table 1.
Gene | ASD subject | Unaffected parent2 | Unaffected | Odds4 Ratio | |||
---|---|---|---|---|---|---|---|
Unknown Inheritance | Inherited | Tr-ASD3 | NT3 | Tr-not-ASD3 | |||
q-value < 0.1 | |||||||
ANK2 | 1 | ∞ | |||||
ASXL3 | 1 | ∞ | |||||
VIL1 | 1 | 1 | 1.49 | ||||
0.1 ≤ q-value < 0.3: Evidence for role in ASD | |||||||
UTP6 | 1 | ∞ | |||||
DNAH10 | 1 | 1 | 1.49 | ||||
ATP1B1 | 1 | ∞ | |||||
GGNBP2 | 1 | ∞ | |||||
NRXN1 | 2 | 1 | 2.99 | ||||
WHSC1 | 1 | ∞ | |||||
HDLBP 5 | 1 | 2 | 1 | 1 | 1 | 2.24 | |
CERS4 | 1 | 1 | 1.49 | ||||
SHANK3 | 4 | ∞ | |||||
IQGAP2 | 1 | ∞ | |||||
0.1 ≤ q-value < 0.3: Evidence against role in ASD | |||||||
EP400 | 1 | 0 | |||||
SLCO1B1 5,6 | 1 | 1 | 1 | 1 | 1 | 0.996 | |
SLCO1B3 6 | 1 | 1 | 2 | 1 | 0.37 | ||
KDM6B | 1 | 0 |
Count of deletion copy number variants, inferred from sequence, for ASD subjects and those unaffected by ASD. Number of subjects and family status: 849 ASD without family information; 1467 ASD subjects in families; 2766 unaffected parents; 319 unaffected siblings of ASD subjects; 373 unaffected subjects without family information.
No parents in this count were affected; 7 parents in the study were affected, none carried a CNV reported in the table and these subjects did not enter the calculation.
Tr-ASD = transmitted to ASD subject from carrier parent; NT=parent a carrier but CNV not transmitted to affected child; Tr-not-ASD = parent transmits a CNV to an unaffected child.
To compute the odds ratio we count the number ‘a’ of affected carriers, ‘b’ unaffected carriers (including parents), ‘c’ affected subjects who do not have the CNV, and ‘d’ unaffected non-carriers. The odds ratio = (ad)/(bc).
One parent transmits the CNV to an affected and unaffected offspring; to obtain the total count of controls with a CNV, subtract one.
Genes are adjacent in the genome (see Extended Data Fig. 4). For 3 subjects both genes are hit by the same CNV (1 ASD and 2 unaffected subjects).