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Table 3 List of genes from the Satterstrom et al. (2020) whole-exome sequencing study [12] and DDD study (2017) [50], overlapping with CNVs in the AAB dataset

From: Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

Sample ID Group Sex CNV coordinates Gene Description Overlap % of gene Cytoband
Diagnosed children
 Deletions
  1101306* ASD F chr2:148,730,454–148,883,419 MBD5 methyl-CpG binding domain protein 5 21 2q23.1
  1101211+  ASD M chr10:27,978,030–28,041,669 MKX mohawk homeobox 78 10p12.1
  3305052 ASD M chr19:10,609,319–12,464,434 ELAVL3 ELAV like neuron-specific RNA binding protein 3 100 19p13.2
  4406296^ ASD M chr20:61,824,507–62,321,517 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 100 20q13.33
  4406297^ ASD M chr20:61,802,599–62,268,955 KCsNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 100 20q13.33
  1101417 ASD M chr2:32,277,654–32,818,823 SPAST spastin 100 2p22.3
  1101240 ASD M chr4:6,104,865–7,415,038 KIAA0232 KIAA0232 100 4p16.1
  4406214 ASD F chr15:22,321,690–32,515,100 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 100 15q12
 Parents transmitting CNVs
  1116306* Mother F chr2:148,730,454–148,883,419 MBD5 methyl-CpG binding domain protein 5 21 2q23.1
  1116211+  Mother F chr10:27,978,030–28,041,669 MKX mohawk homeobox 78 10p12.1
  4411296^ Mother F chr20:61,802,599–62,321,517 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 100 20q13.33
  1. Genes associated with ASD, ID and DD were taken from the Satterstrom et al. whole-exome sequencing study [12], and the DDD gene set [50]. If the AAB CNV was a deletion, gene overlap was called if there was any exonic overlap; if the CNV was a duplication, gene overlap was called if there was full overlap. A full list of CNVs overlapping ASD/ID/DD-associated genes – including those from parents that were not transmitted to children in the dataset – is provided in Supplementary Table 8d
  2. *, + ,^ denote CNVs shared by individuals within the same family (either inherited from parents, or shared between siblings), suggesting inheritance. CNV, copy number variant