Evidence Detail for DLX6

View Evidences	View Annotations

Basic Information Top

Gene Symbol:	DLX6 ( MGC125282,MGC125283,MGC125284,MGC125285 )
Gene Full Name:	distal-less homeobox 6
Band:	7q22
Quick Links	Entrez ID:1750; OMIM: 600030; Uniprot ID:B3KSQ0_HUMAN; ENSEMBL ID: ENSG00000006377

Sequences Top

nucleotide Sequence
Protein Sequence

>DLX6|1750|nucleotide
Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (0)	0 (0)	0 (0)	0 (0)	2 (3)	1 (2)	13 (5)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 3

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Nabi, 2003_1	AGRE	1 (detail)	196	407 (-)			ASD	- -	- -
Chang, 2010_1	USA	5 (detail)	715	1372 (20.00%)			ASD	- -	- -
MIXED/OTHERS
Chang, 2011_1	USA	5 (detail)	715	1372 (20.00%)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	Diagnosis	Evidence Level
Hamilton, 2005_1	human	blood	ASD	genetics: mutation screen
Subjects: 161 Normal Controls: 378 Methods: mutation screen Evidence Details: Sequencing of exons, exon/intron boundaries and known enhancers of DLX1, 2, 5 and 6 identified several nonsynonymous variants in DLX2 and DLX5 and a variant in a DLX5/6 intragenic enhancer. The nonsynonymous variants were detected in 4 of 95 families from which samples were sequenced. Two of these four SNPs were not observed in 378 undiagnosed samples from North American populations, while the remaining 2 were seen in one sample each.
Nakashima, 2009_2	human	lymphoblasts	ASD	genetics: mutation screen
Subjects: 64 Normal Controls: - Methods: denaturing high-performance liquid chromatography (DHPLC) analysis, direct sequence Evidence Details: In DLX6, we detected a G656A base change (R219H) in two ASD patients who were male siblings. DLX6 may contribute to the pathogenesis of ASD.

Large Scale Expression Studies Top

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs	Evidence Type	Reference
Case	Control
No matched CNVs !

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
Click to Download Data