| Variant ID | 1142 |
|---|---|
| Entrez Gene ID | 8208 |
| Gene | CHAF1B (GeneCards) |
| Location | hg19 21:37783811-37783811
hg38 21:36411513-36411513 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000021.8:g.37783811 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 324 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1262 |
| CADD Raw score (version 1.3) | 5.172837 (Deleterious) |
| FATHMM raw prediction score | 0.98844 (Tolerated) |
| SIFT score | 0.313 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.28 (Tolerated) |
| PROVEAN score | -0.83 (Tolerated) |
| MetaSVM score | -0.836 (Tolerated) |
| MetaLR score | 0.211 (Tolerated) |
| MCAP score | 0.05 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.31 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.483 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.989 |
| Deleterious probability by iFish2 | 0.9794 (Deleterious) |
| Deleterious probability by DeFine | 0.9662 (Deleterious) |
| Entrez Gene ID | 8208 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHAF1B (GeneCards) |
| Number of variants in CHAF1B in this database | 1 (view all the variants) |
| Full name | chromatin assembly factor 1 subunit B |
| Band | 21q22.12-q22.13 |
| Other IDs | Vega: OTTHUMG00000086606 OMIM: 601245 HGNC: HGNC:1911 Ensembl: ENSG00000159259 |
| Other names | CAF1, MPP7, CAF-1, CAF1A, CAF1P60, CAF-IP60, MPHOSPH7 |
| Summary | Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (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; |