| Variant ID | 975 |
|---|---|
| Entrez Gene ID | 150468 |
| Gene | CKAP2L (GeneCards) |
| Location | hg19 2:113498516-113498516
hg38 2:112740939-112740939 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.113498516 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 631 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4848206 |
| Variant occurences in COSMIC | 1(cervix) |
| EIGEN score | -0.1146 |
| CADD Raw score (version 1.3) | 3.999966 (Deleterious) |
| FATHMM raw prediction score | 0.10532 (Tolerated) |
| SIFT score | 0.047 (Deleterious) |
| LRT score | 0.057 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.97 (Deleterious) |
| PROVEAN score | -0.99 (Tolerated) |
| MetaSVM score | -1.046 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.001 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.047 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.494 |
| Deleterious probability by iFish2 | 0.0524 (Neutral) |
| Deleterious probability by DeFine | 0.6264 (Deleterious) |
| Entrez Gene ID | 150468 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CKAP2L (GeneCards) |
| Number of variants in CKAP2L in this database | 1 (view all the variants) |
| Full name | cytoskeleton associated protein 2 like |
| Band | 2q14.1 |
| Other IDs | Vega: OTTHUMG00000131313 OMIM: 616174 HGNC: HGNC:26877 Ensembl: ENSG00000169607 |
| Other names | None |
| Summary | The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] |
| 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; |