| Variant ID | 29594 |
|---|---|
| Entrez Gene ID | 3065 |
| Gene | HDAC1 (GeneCards) |
| Location | hg19 1:32790137-32790137
hg38 1:32324536-32324536 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.32790137 C>T (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9939 |
| CADD Raw score (version 1.3) | 7.128862 (Deleterious) |
| FATHMM raw prediction score | 0.99552 (Tolerated) |
| SIFT score | 0.093 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.325 (Deleterious) |
| PROVEAN score | -5.18 (Deleterious) |
| MetaSVM score | 0.701 (Deleterious) |
| MetaLR score | 0.726 (Deleterious) |
| MCAP score | 0.261 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.695 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.134 |
| Deleterious probability by iFish2 | 0.6724 (Deleterious) |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 3065 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HDAC1 (GeneCards) |
| Number of variants in HDAC1 in this database | 1 (view all the variants) |
| Full name | histone deacetylase 1 |
| Band | 1p35.2-p35.1 |
| Other IDs | Vega: OTTHUMG00000007529 OMIM: 601241 HGNC: HGNC:4852 Ensembl: ENSG00000116478 |
| Other names | HD1, RPD3, GON-10, RPD3L1 |
| Summary | Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.270 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |