| Variant ID | 5773 |
|---|---|
| Entrez Gene ID | 8850 |
| Gene | KAT2B (GeneCards) |
| Location | hg19 3:20150629-20150629
hg38 3:20109137-20109137 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.20150629 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1094 |
| CADD Raw score (version 1.3) | 0.229512 (Deleterious) |
| FATHMM raw prediction score | 0.17776 (Tolerated) |
| Deleterious probability by DeFine | 0.1302 (Neutral) |
| Entrez Gene ID | 8850 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KAT2B (GeneCards) |
| Number of variants in KAT2B in this database | 4 (view all the variants) |
| Full name | lysine acetyltransferase 2B |
| Band | 3p24.3 |
| Other IDs | Vega: OTTHUMG00000130481 OMIM: 602303 HGNC: HGNC:8638 Ensembl: ENSG00000114166 |
| Other names | CAF, PCAF, P/CAF |
| Summary | CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [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; |