| Variant ID | 4326 |
|---|---|
| Entrez Gene ID | 55777 |
| Gene | MBD5 (GeneCards) |
| Location | hg19 2:149037975-149037975
hg38 2:148280406-148280406 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.149037975 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4731 |
| CADD Raw score (version 1.3) | -0.197059 (Deleterious) |
| FATHMM raw prediction score | 0.0549 (Tolerated) |
| Deleterious probability by DeFine | 0.3298 (Neutral) |
| 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 | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |