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 |