Evidence Detail for YWHAE

Basic Information
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Gene Symbol: | YWHAE ( 14-3-3E,FLJ45465,FLJ53559,KCIP-1,MDCR,MDS ) |
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Gene Full Name: | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide |
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Band: | 17p13.3 |
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Quick Links | Entrez ID:7531; OMIM: 605066; Uniprot ID:1433E_HUMAN; ENSEMBL ID: ENSG00000108953 |
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>YWHAE|7531|nucleotide
ATGGATGATCGAGAGGATCTGGTGTACCAGGCGAAGCTGGCCGAGCAGGCTGAGCGATACGACGAAATGGTGGAGTCAATGAAGAAAGTAGCAGGGATGGATGTG
GAGCTGACAGTTGAAGAAAGAAACCTCCTATCTGTTGCATATAAGAATGTGATTGGAGCTAGAAGAGCCTCCTGGAGAATAATCAGCAGCATTGAACAGAAAGAA
GAAAACAAGGGAGGAGAAGACAAGCTAAAAATGATTCGGGAATATCGGCAAATGGTTGAGACTGAGCTAAAGTTAATCTGTTGTGACATTCTGGATGTACTGGAC
AAACACCTCATTCCAGCAGCTAACACTGGCGAGTCCAAGGTTTTCTATTATAAAATGAAAGGGGACTACCACAGGTATCTGGCAGAATTTGCCACAGGAAACGAC
AGGAAGGAGGCTGCGGAGAACAGCCTAGTGGCTTATAAAGCTGCTAGTGATATTGCAATGACAGAACTTCCACCAACGCATCCTATTCGCTTAGGTCTTGCTCTC
AATTTTTCCGTATTCTACTACGAAATTCTTAATTCCCCTGACCGTGCCTGCAGGTTGGCAAAAGCAGCTTTTGATGATGCAATTGCAGAACTGGATACGCTGAGT
GAAGAAAGCTATAAGGACTCTACACTTATCATGCAGTTGTTACGTGATAATCTGACACTATGGACTTCAGACATGCAGGGTGACGGTGAAGAGCAGAATAAAGAA
GCGCTGCAGGACGTGGAAGACGAAAATCAGTGA
« Hide>YWHAE|7531|protein
MDDREDLVYQAKLAEQAERYDEMVESMKKVAGMDVELTVEERNLLSVAYKNVIGARRASWRIISSIEQKEENKGGEDKLKMIREYRQMVETELKLICCDILDVLD
KHLIPAANTGESKVFYYKMKGDYHRYLAEFATGNDRKEAAENSLVAYKAASDIAMTELPPTHPIRLGLALNFSVFYYEILNSPDRACRLAKAAFDDAIAELDTLS
EESYKDSTLIMQLLRDNLTLWTSDMQGDGEEQNKEALQDVEDENQ
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Evidence Statistic
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Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. 
Syndromic Autism Gene
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Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked. Inheritance | AD |
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OMIM | Miller-Dieker lissencephaly syndrome (247200) |
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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 |
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Reference(s) | 19136950; 20452996; |
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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. |
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Low Scale Association Studies (by Ethnic Group)
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Family Based Association Studies: 0
Reference |
Population |
#SNPs/ #VNTRs |
#Families |
Affecteds |
Result |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ (range) |
No Evidence. |
Case Control Based Association Studies: 0
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)
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Family Based Association Studies: 0
Reference |
Stage |
#SNPs/ #VNTRs |
#Families |
Affecteds |
Result |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Age (range) |
IQ (range) |
No Evidence. |
Case Control Based Association Studies: 0
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
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Reference |
Orangnism |
Tissue |
ADI-R |
ADOS |
Diagnosis |
Evidence Level |
Result |
No Evidence. |

Large Scale Expression Studies
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Microarray Studies: 0
Reference |
Population |
Tissue |
#Subjects (% Women) |
ADI-R |
ADOS |
Endo- pheno |
Diagnosis |
Normal Controls (% Women) |
Fold Change |
Up/ Down |
P/Q value |
No Evidence. |
Proteomics Studies:0
Reference |
Population |
Tissue |
Platform |
#Subjects (% Women) |
ADI-R |
ADOS |
Diagnosis |
Normal Controls(% Women) |
No Evidence. |

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