Skip to main content

Table 2 ASD/ID-associated CNVs detected in the AAB dataset

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

Diagnosed children
Sample ID Group Sex Type CNV coordinates ASD/ID-associated CNV Reference coordinates Other information
CNVs with a critical gene
1101366 ASD M Dup chr17:1,196,088–1,326,656 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1)^ chr17:1,247,833–2,588,909 Critical gene coordinates: YWHAE: chr17:1,247,569–1,268,350; PAFAH1B1: chr17:2,541,583–2,585,096
1101637 ASD M Dup chr17:29,111,368–30,343,735 17q11.2 recurrent region (includes NF1) chr17:29,097,069–30,264,027 Critical gene coordinates: chr17:29,422,328–29,701,173
CNVs without a critical gene
4406214 ASD F Dup chr15:22,321,690–32,515,100 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) chr15:22,832,519–28,379,874 100.00% overlap
3305166 ASD M Del chr15:29,079,105–32,515,100 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) chr15:32,019,621–32,445,405 100.00% overlap
1101486 ASD M Del chr15:31,007,901–32,515,100 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) chr15:32,019,621–32,445,405 100.00% overlap
1101365 ASD M Del chr15:31,115,226–32,515,100 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) chr15:32,019,621–32,445,405 100.00% overlap
4406241* ASD M Del chr16:21,973,913–22,414,463 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) chr16:21,946,524–22,467,284 84.60% overlap
3305177 ASD M Del chr16:28,832,565–29,044,745 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) chr16:28,822,635–29,046,499 94.78% overlap
1101491 ASD F Del chr22:18,877,787–21,461,607 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) chr22:15,912,231–21,465,672 99.84% overlap
4406202 ASD F Del chrX:6,488,784–8,135,053 Xp22.31 recurrent region (includes STS) chrX:6,455,812–8,133,195 98.02% overlap
Parents
4411283* MTR M Del chr16:21,956,457–22,414,463 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) chr16:21,946,524–22,467,284 87.95
2215012 MTR F Del chr22:19,036,154–20,244,259 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) chr22:18,912,231–20,287,208 87.86
1116571 MTR F Del chrX:6,456,940–8,135,053 Xp22.31 recurrent region (includes STS) chrX:6,455,812–8,133,195 99.93
  1. ASD/ID-associated CNVs were taken from ClinGen [47] and DECIPHER [48] datasets, filtering for ASD/ID-associated loci. For reference CNVs with a critical gene, AAB CNVs were annotated where there was any overlap with the critical gene, with the critical gene coordinates provided in the "Other information" column. For reference CNVs without a critical gene, the AAB CNV was called as overlapping with an ASD/ID-associated CNV based on ≥ 80% overlap with the reference coordinates, with percentage overlap provided in the "Other information" column. Genome coordinates are hg19. Biobank Sample IDs have been anonymized
  2. *Refers to parent–child pairs between which ASD/ID-associated CNVs appeared to be inherited in this dataset
  3. ^Note that the CNV for ID 1101366 only overlaps the YWHAE critical gene