| Variant ID | 29304 |
|---|---|
| Entrez Gene ID | 1786 |
| Gene | DNMT1 (GeneCards) |
| Location | hg19 19:10250926-10250926
hg38 19:10140250-10140250 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000019.9:g.10250926 G>A (Genome Assembly: GRCh37) |
| 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4502 |
| CADD Raw score (version 1.3) | 2.676438 (Deleterious) |
| FATHMM raw prediction score | 0.96362 (Tolerated) |
| SIFT score | 0.104 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.155 (Tolerated) |
| PROVEAN score | -3.42 (Deleterious) |
| MetaSVM score | 0.129 (Deleterious) |
| MetaLR score | 0.561 (Deleterious) |
| MCAP score | 0.141 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.54 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.793 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.258 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.9616 (Deleterious) |
| Entrez Gene ID | 1786 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNMT1 (GeneCards) |
| Number of variants in DNMT1 in this database | 1 (view all the variants) |
| Full name | DNA methyltransferase 1 |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000180397 OMIM: 126375 HGNC: HGNC:2976 Ensembl: ENSG00000130816 |
| Other names | AIM, DNMT, MCMT, CXXC9, HSN1E, ADCADN, m.HsaI |
| Summary | This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
| Individual ID | 28503910.181 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |