Evidence Detail for YWHAE

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Basic Information Top

Gene Symbol:	YWHAE ( 14-3-3E,FLJ45465,FLJ53559,KCIP-1,MDCR,MDS )
Gene Full Name:	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Band:	17p13.3
Quick Links	Entrez ID:7531; OMIM: 605066; Uniprot ID:1433E_HUMAN; ENSEMBL ID: ENSG00000108953

Sequences Top

nucleotide Sequence
Protein Sequence

>YWHAE|7531|nucleotide
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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)	Yes	0 (0)	0 (0)	1 (3)	0 (0)	0 (0)	0 (0)	2 (0)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AD
OMIM	Miller-Dieker lissencephaly syndrome (247200)
Description	Deletions including YWHAE are associated with Miller-Dieker syndrome, a contiguous gene syndrome; YWHAE is thought to be responsible for the more severe brain phenotype compared to deletions affecting only PAFAH1B1; 17p13.3 microduplications mapping to the Miller-Dieker critical region have also been identified. Only microduplications have been reported in ASD
Reference(s)	19136950; 20452996;
Level	Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

Low Scale Association Studies (by Ethnic Group) Top

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

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

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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000373	17	17p13.3	-	-	-	CNVs Only Present In Patients; Significant Enriched CNVs;	Zwaag, 2009
AutCNV0000720	17	17p13.3	gain	1	-	Denovo CNVs;	Bremer, 2011
AutCNV0004419	17	17p13.3	gain	-	-	CNVs Only Present In Patients;	Nord, 2011

Linkage Studies Top

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

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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
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