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
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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 (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.
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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