| Variant ID | 794 |
|---|---|
| Entrez Gene ID | 23522 |
| Gene | KAT6B (GeneCards) |
| Location | hg19 10:76735979-76735979
hg38 10:74976221-74976221 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.76735979 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 628 |
| Amino acid changes in protein | K > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.605 |
| CADD Raw score (version 1.3) | 4.898852 (Deleterious) |
| FATHMM raw prediction score | 0.9778 (Tolerated) |
| SIFT score | 0.046 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.735 (Tolerated) |
| PROVEAN score | -1.36 (Tolerated) |
| MetaSVM score | -0.302 (Tolerated) |
| MetaLR score | 0.434 (Tolerated) |
| MCAP score | 0.043 (Deleterious) |
| FitCons score | 0.73 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.034 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.069 |
| Deleterious probability by iFish2 | 0.0848 (Neutral) |
| Deleterious probability by DeFine | 0.962 (Deleterious) |
| Entrez Gene ID | 23522 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KAT6B (GeneCards) |
| Number of variants in KAT6B in this database | 2 (view all the variants) |
| Full name | lysine acetyltransferase 6B |
| Band | 10q22.2 |
| Other IDs | Vega: OTTHUMG00000018509 OMIM: 605880 HGNC: HGNC:17582 Ensembl: ENSG00000156650 |
| Other names | qkf, MORF, MOZ2, GTPTS, MYST4, ZC2HC6B, qerkopf |
| Summary | The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |