Detail Information of AutCNV0004389

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
Caucasion	-	-	ASD	1127	1127	-	-	-	-	-	Sanders, 2011
Population:	Simons Simplex Collection
Platform:	Illumina Infinium 1M SNP array
Method:	SNP microarray
Marker:	-
Band:	22q11.21
Evidences:	Overlapping/Recurrent CNVs; Denovo CNVs;
Region:	Chr22: 18861748-21489918 (hg18: Chr22: 17241748-19819918)
Gain/Loss:	gain

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
AutG6899	TBX1	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
AutG54584	GNB1L	0	1	1	0	2	1	20
AutG1312	COMT	2	0	0	0	2	1	10
AutG7122	CLDN5	0	0	0	2	2	1	8
AutG9993	DGCR2	0	0	0	1	2	1	7
AutG3053	SERPIND1	0	0	0	1	2	1	7
AutG25787	DGCR9	0	0	0	1	1	1	5

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018