| Variant ID | 882 |
|---|---|
| Entrez Gene ID | 54915 |
| Gene | YTHDF1 (GeneCards) |
| Location | hg19 20:61834066-61834066
hg38 20:63202714-63202714 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.61834066 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 409 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5909 |
| CADD Raw score (version 1.3) | 5.991002 (Deleterious) |
| FATHMM raw prediction score | 0.98573 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.08 (Deleterious) |
| PROVEAN score | -4.25 (Deleterious) |
| MetaSVM score | -0.73 (Tolerated) |
| MetaLR score | 0.192 (Tolerated) |
| MCAP score | 0.045 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.979 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.049 |
| Deleterious probability by iFish2 | 0.9668 (Deleterious) |
| Deleterious probability by DeFine | 0.9524 (Deleterious) |
| Entrez Gene ID | 54915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YTHDF1 (GeneCards) |
| Number of variants in YTHDF1 in this database | 2 (view all the variants) |
| Full name | YTH N6-methyladenosine RNA binding protein 1 |
| Band | 20q13.33 |
| Other IDs | Vega: OTTHUMG00000032955 OMIM: 616529 HGNC: HGNC:15867 Ensembl: ENSG00000149658 |
| Other names | C20orf21 |
| Summary | None |
| 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; |