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. Author manuscript; available in PMC: 2015 May 13.
Published in final edited form as: Nature. 2014 Oct 29;515(7526):209–215. doi: 10.1038/nature13772

Extended Data Table 1.

CNVs hitting TADA genes.

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.

2

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.

3

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.

4

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).

5

One parent transmits the CNV to an affected and unaffected offspring; to obtain the total count of controls with a CNV, subtract one.

6

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).