AutismKB

Evidence Detail for MEF2C


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Basic Information Top
Gene Symbol:MEF2C ( C5DELq14.3; DEL5q14.3 )
Gene Full Name: myocyte enhancer factor 2C
Band: 5q14
Quick LinksEntrez ID:4208; OMIM: 600662; Uniprot ID:MEF2C_HUMAN; ENSEMBL ID: ENSG00000081189
Sequences Top
>MEF2C|4208|nucleotide
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>MEF2C|4208|protein
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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 (2) 0 (0) 0 (0) 2 (2) 16 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMChromosome 5q14.3 deletion syndrome (613443)
DescriptionMEF2C is responsible for the 5q14.3 microdeletion syndrome; both mutations and deletions have been described in individuals with ASD or autistic behavior
Reference(s)20729728; 20412115; 20333642; 20513142;
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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.57).
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000661 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; Novara, 2010
AutCNV0000662 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; Denovo CNVs; Novara, 2010
AutCNV0000706 5 5q14.3 loss 1 - CNVs Only Present In Patients; Ezugha, 2010
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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