| Variant ID | 908 |
|---|---|
| Entrez Gene ID | 79647 |
| Gene | AKIRIN1 (GeneCards) |
| Location | hg19 1:39466647-39466647
hg38 1:39000975-39000975 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.39466647 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 122 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| EIGEN score | 0.1673 |
| CADD Raw score (version 1.3) | 6.418418 (Deleterious) |
| FATHMM raw prediction score | 0.91413 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.865 (Tolerated) |
| PROVEAN score | -4.22 (Deleterious) |
| MetaSVM score | -1.027 (Tolerated) |
| MetaLR score | 0.089 (Tolerated) |
| MCAP score | 0.023 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.32 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.519 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.87 |
| Deleterious probability by iFish2 | 0.4126 (Neutral) |
| Deleterious probability by DeFine | 0.9657 (Deleterious) |
| Entrez Gene ID | 79647 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AKIRIN1 (GeneCards) |
| Number of variants in AKIRIN1 in this database | 1 (view all the variants) |
| Full name | akirin 1 |
| Band | 1p34.3 |
| Other IDs | Vega: OTTHUMG00000007496 OMIM: 615164 HGNC: HGNC:25744 Ensembl: ENSG00000174574 |
| Other names | STRF2, C1orf108 |
| Summary | None |
| 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; |