| Variant ID | 21128 |
|---|---|
| Entrez Gene ID | 1789 |
| Gene | DNMT3B (GeneCards) |
| Location | hg19 20:31373711-31373711
hg38 20:32785905-32785905 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.31373711 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9069 |
| CADD Raw score (version 1.3) | -0.982396 (Deleterious) |
| FATHMM raw prediction score | 0.03426 (Tolerated) |
| Deleterious probability by DeFine | 0.2125 (Neutral) |
| Entrez Gene ID | 1789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNMT3B (GeneCards) |
| Number of variants in DNMT3B in this database | 2 (view all the variants) |
| Full name | DNA methyltransferase 3 beta |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032226 OMIM: 602900 HGNC: HGNC:2979 Ensembl: ENSG00000088305 |
| Other names | ICF, ICF1, M.HsaIIIB |
| Summary | CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |