Autism Chromosome Rearrangement Database

Service retired

This database is no longer actively maintained. We thank all users for their interest and support over the years.

About the project

The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature, databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies. We welcome submission of data and comments regarding the database from the research community.

Database first described in Xu, J., Zwaigenbaum, L., Szatmari, P. and Scherer, S.W. 2004. Molecular Cytogenetics of Autism. Current Genomics 5(4), 347-364.

Additional information can be obtained from Marshall CR, Noor A, Vincent VB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P and Scherer SW. Structural Variation of Chromosomes in Autism Spectrum Disorder (2008). Am J Hum Genet.

Studies included in ACRD

The table below outlines the studies that have been used as sources for the data and the number of regions included from each study.

Literature Reference	Year	# Regions (ACRD/study)	PubMedID	Assembly/Version	Comment
Jacquemont et al.	2006	10(33)	16840569	hg17/Build 35/May 2004	*23/33 variants were previously been described as normal variants in the general population, only 10 potentially pathogenic variants are displayed in the database
Autism Genome Project Consortium	2007	212(624)	17322880	hg17/Build 35/May 2004	*Three different types of CNV analysis were performed with the filtered (CNV calls with highest confidence) dataset having 624 calls. Only CNVs in those with an autism diagnoses (Figure 2 & Supplementary table 5) were used (254). In addition, those CNV <1kb and >10Mb filtered out leaving 212 CNV for display in the database
Sebat et al.	2007	15(17)	17363630	hg17/Build 35/May 2004	*De novo CNV in those with ASD (Table 1) are displayed in the database. De novo CNV in two controls were omitted
Kumar et al.	2008	6(8)	18156158	hg18/Build 36/March 2006	*Only those with ASD diagnoses and 16p11.2 CNV (Table 1 and Figure 2) are included in the database (two controls omitted)
Weiss et al.	2008	8(8)	18184952	hg18/Build 36/March 2006	*Those with an ASD diagnoses and 16p11.2 CNV were included (Supplementary Table 1)
Marshall et al.	2008	275(3695)	18252227	hg17/Build 35/May 2004	*Displayed in the database are 275 CNV (modified from Supplementary Table 3 and Figure 1) found in patients with an ASD Diagnosis. CNVs were called by more than one algorithm and have >95% validation rate using qPCR. Also included are those CNV in Tables 2 and 3, and CNV listed in Supplementary Table 3 that did not validate were excluded.
Christian et al.	2008	51(402)	18374305	hg18/Build 36/March 2006	*51 CNV present in those with ASD but not in controls are displayed in the database (see Table 2 and Supplementary Table 3). An additional 351 CNV (Supplementary table 4) from the ASD cohort were considered normal variation
Morrow et al.	2008	5(5)	18621663	hg18/Build 36/March 2006	Five homozygous deletions in individuals with an ASD diagnosis are displayed in the database (Supplementary Table 5)