Detail Information of AutCNV0000385

1. Sample AND Method Top

Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.

Ancestry	ADI-R	ADOS	Diagnosis	Family				Individual			Reference
Ancestry	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total	Reference
Not Mentioned			autism	-	-	-	-	105	267	372	Zwaag, 2009
Population:	-
Platform:	Illumina Humanhap300 Beadchip
Method:	SNP microarray
Marker:	BRD1
Band:	22q13.33
Evidences:	CNVs Only Present In Patients; Significant Enriched CNVs;
Region:	Chr22: - (Deduced by Band)
Gain/Loss:

2. Related Syndromic Genes Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Gene ID	Gene Symbol	Inheritance	Evidence Level
AutG85358	SHANK3	AD	Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

3. Related Non-syndromic Genes Top

Gene ID	Gene Symbol	Evidence Score						Total Score
Gene ID	Gene Symbol	Low-Scale Association	GWAS	Low-Scale Single Gene	Expression	CNV	Linkage	Total Score
AutG85358	SHANK3	2	1	3	0	2	0	62
AutG1120	CHKB	0	0	0	1	2	0	5
AutG56666	PANX2	0	0	0	1	2	0	5

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018