| Variant ID | 11419 |
|---|---|
| Entrez Gene ID | 9734 |
| Gene | HDAC9 (GeneCards) |
| Location | hg19 7:18989114-18989114
hg38 7:18949491-18949491 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.18989114 C>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5408 |
| CADD Raw score (version 1.3) | -0.16311 (Deleterious) |
| FATHMM raw prediction score | 0.04175 (Tolerated) |
| Deleterious probability by DeFine | 0.1776 (Neutral) |
| Entrez Gene ID | 9734 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HDAC9 (GeneCards) |
| Number of variants in HDAC9 in this database | 15 (view all the variants) |
| Full name | histone deacetylase 9 |
| Band | 7p21.1 |
| Other IDs | Vega: OTTHUMG00000152487 OMIM: 606543 HGNC: HGNC:14065 Ensembl: ENSG00000048052 |
| Other names | HD7, HD9, HD7b, HDAC, HDRP, MITR, HDAC7, HDAC7B, HDAC9B, HDAC9FL |
| Summary | Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |