| Variant ID | 1381 |
|---|---|
| Entrez Gene ID | 79885 |
| Gene | HDAC11 (GeneCards) |
| Location | hg19 3:13525042-13525042
hg38 3:13483542-13483542 |
| Disease | Asymptomatic |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000003.11:g.13525042_13525042 del (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 | NM_024827.3 |
| mRNA length | 2918 |
| Reference length | 198022430 |
| Deleterious probability by DeFine | 0.8782 (Deleterious) |
|---|
| Entrez Gene ID | 79885 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HDAC11 (GeneCards) |
| Number of variants in HDAC11 in this database | 2 (view all the variants) |
| Full name | histone deacetylase 11 |
| Band | 3p25.1 |
| Other IDs | Vega: OTTHUMG00000129800 OMIM: 607226 HGNC: HGNC:19086 Ensembl: ENSG00000163517 |
| Other names | HD11 |
| Summary | This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] |
| Individual ID | 28235832.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |