Detail Information of AutCNV0000298

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			PDD-NOS	-	-	-	-	2	-	2	Mann, 2004
Population:	-
Platform:	-
Method:	STS mapping
Marker:	D15S542-D15S97
Band:	15q11-12
Evidences:	CNVs Only Present In Patients;
Region:	Chr15: 25257404-29097694
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
AutG7337	UBE3A	AD	Level 4: The disorder is 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
AutG2562	GABRB3	2	0	3	1	3	0	41
AutG7337	UBE3A	1	0	1	1	2	0	25
AutG2558	GABRA5	1	0	1	2	3	0	20
AutG57194	ATP10A	2	0	0	0	2	0	9
AutG2567	GABRG3	1	0	0	0	3	0	8

Simple Query:

Paper Collected: 6/30/2018

Last Update: 8/26/2018