| Variant ID | 962 |
|---|---|
| Entrez Gene ID | 6491 |
| Gene | STIL (GeneCards) |
| Location | hg19 1:47728780-47728780
hg38 1:47263108-47263108 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.47728780 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 828 |
| 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 |
|---|---|
| EIGEN score | 0.5656 |
| CADD Raw score (version 1.3) | 5.618198 (Deleterious) |
| FATHMM raw prediction score | 0.95816 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0.265 (Tolerated) |
| MutationTaster score | 0.978 (Deleterious) |
| MutatioinAssessor score | 2.52 (Deleterious) |
| PROVEAN score | -2.55 (Deleterious) |
| MetaSVM score | -0.997 (Tolerated) |
| MetaLR score | 0.131 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.952 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.932 |
| Deleterious probability by iFish2 | 0.1407 (Neutral) |
| Deleterious probability by DeFine | 0.9314 (Deleterious) |
| Entrez Gene ID | 6491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STIL (GeneCards) |
| Number of variants in STIL in this database | 2 (view all the variants) |
| Full name | STIL, centriolar assembly protein |
| Band | 1p33 |
| Other IDs | Vega: OTTHUMG00000007851 OMIM: 181590 HGNC: HGNC:10879 Ensembl: ENSG00000123473 |
| Other names | SIL, MCPH7 |
| Summary | This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [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; |