| Variant ID | 876 |
|---|---|
| Entrez Gene ID | 10129 |
| Gene | FRY (GeneCards) |
| Location | hg19 13:32811761-32811761
hg38 13:32237624-32237624 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.32811761 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2019 |
| Amino acid changes in protein | R > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3529 |
| CADD Raw score (version 1.3) | 3.407751 (Deleterious) |
| FATHMM raw prediction score | 0.99628 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.805 (Deleterious) |
| MetaSVM score | -1.134 (Tolerated) |
| MetaLR score | 0.075 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.965 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.879 |
| Deleterious probability by iFish2 | 0.6738 (Deleterious) |
| Deleterious probability by DeFine | 0.9616 (Deleterious) |
| Entrez Gene ID | 10129 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRY (GeneCards) |
| Number of variants in FRY in this database | 4 (view all the variants) |
| Full name | FRY microtubule binding protein |
| Band | 13q13.1 |
| Other IDs | Vega: OTTHUMG00000016696 OMIM: 614818 HGNC: HGNC:20367 Ensembl: ENSG00000073910 |
| Other names | CG003, 13CDNA73, 214K23.2, C13orf14, bA207N4.2, bA37E23.1 |
| 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; |