Detail Information of AutCNV0000706

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			autism	-	-	-	-	1	-	1	Ezugha, 2010
Complication:	mitochondrial disease
Population:	-
Platform:	custom BAC array
Method:	aCGH
Marker:	-
Band:	5q14.3
Evidences:	CNVs Only Present In Patients;
Region:	Chr5: 82764244-91874244 (Deduced by Band)
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
AutG4208	MEF2C	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
AutG84059	ADGRV1	0	0	1	1	1	0	23
AutG1462	VCAN	0	0	0	1	1	0	3
AutG57561	ARRDC3	0	0	0	1	1	0	3

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018