| Variant ID | 29716 |
|---|---|
| Entrez Gene ID | 4209 |
| Gene | MEF2D (GeneCards) |
| Location | hg19 1:156452416-156452416
hg38 1:156482624-156482624 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.156452416 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9675 |
| CADD Raw score (version 1.3) | 7.722942 (Deleterious) |
| FATHMM raw prediction score | 0.96789 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.45 (Deleterious) |
| PROVEAN score | -3.39 (Deleterious) |
| MetaSVM score | 1.105 (Deleterious) |
| MetaLR score | 0.955 (Deleterious) |
| MCAP score | 0.448 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.476 |
| Deleterious probability by iFish2 | 0.9983 (Deleterious) |
| Deleterious probability by DeFine | 0.9728 (Deleterious) |
| Entrez Gene ID | 4209 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEF2D (GeneCards) |
| Number of variants in MEF2D in this database | 2 (view all the variants) |
| Full name | myocyte enhancer factor 2D |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000033095 OMIM: 600663 HGNC: HGNC:6997 Ensembl: ENSG00000116604 |
| Other names | None |
| Summary | This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |