| Variant ID | 2079 |
|---|---|
| Entrez Gene ID | 6491 |
| Gene | STIL (GeneCards) |
| Location | hg19 1:47760516-47760516
hg38 1:47294844-47294844 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.47760516 A>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | 0.1725 |
| CADD Raw score (version 1.3) | 0.045453 (Deleterious) |
| FATHMM raw prediction score | 0.32736 (Tolerated) |
| Deleterious probability by DeFine | 0.3615 (Neutral) |
| 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 | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |