| Variant ID | 976 |
|---|---|
| Entrez Gene ID | 55777 |
| Gene | MBD5 (GeneCards) |
| Location | hg19 2:149216355-149216355
hg38 2:148458786-148458786 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.149216355 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 10 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1426 |
| CADD Raw score (version 1.3) | 4.173873 (Deleterious) |
| FATHMM raw prediction score | 0.94208 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.905 (Tolerated) |
| PROVEAN score | -1.81 (Tolerated) |
| MetaSVM score | -0.949 (Tolerated) |
| MetaLR score | 0.162 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.053 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.64 |
| Deleterious probability by iFish2 | 0.9256 (Deleterious) |
| Deleterious probability by DeFine | 0.9515 (Deleterious) |
| Entrez Gene ID | 55777 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MBD5 (GeneCards) |
| Number of variants in MBD5 in this database | 7 (view all the variants) |
| Full name | methyl-CpG binding domain protein 5 |
| Band | 2q23.1 |
| Other IDs | Vega: OTTHUMG00000150440 OMIM: 611472 HGNC: HGNC:20444 Ensembl: ENSG00000204406 |
| Other names | MRD1 |
| Summary | This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |