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 LinksEntrez ID:7531; OMIM: 605066; Uniprot ID:1433E_HUMAN; ENSEMBL ID: ENSG00000108953
Sequences Top
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Evidence Statistic Top

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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.
OMIMMiller-Dieker lissencephaly syndrome (247200)
DescriptionDeletions 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;
LevelLevel 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
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
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

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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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