Detail Information of AutCNV0000710

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
Asian	-	-	autism	-	-	-	-	1	-	1	Chen, 2011
Complication:	MR, epilepsy, developmental delay,atopic dermatiti
Population:	-
Platform:	-
Method:	FISH, aCGH
Marker:	-
Band:	22q13.2-qter
Evidences:	CNVs Only Present In Patients;
Region:	Chr22: -
Gain/Loss:	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
AutG56666	PANX2	0	0	0	1	2	0	5
AutG1120	CHKB	0	0	0	1	2	0	5
AutG706	TSPO	0	0	0	2	1	0	4
AutG638	BIK	0	0	0	1	1	0	3
AutG5465	PPARA	0	0	0	1	1	0	3

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018