| Variant ID | 29499 |
|---|---|
| Entrez Gene ID | 3868 |
| Gene | KRT16 (GeneCards) |
| Location | hg19 17:39766665-39766665
hg38 17:41610413-41610413 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.39766665 A>G (Genome Assembly: hg19) |
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7939 |
| CADD Raw score (version 1.3) | 4.972813 (Deleterious) |
| FATHMM raw prediction score | 0.97393 (Tolerated) |
| SIFT score | 0.048 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.455 (Deleterious) |
| PROVEAN score | -4.37 (Deleterious) |
| MetaSVM score | 1.079 (Deleterious) |
| MetaLR score | 0.939 (Deleterious) |
| MCAP score | 0.271 (Deleterious) |
| FitCons score | 0.598 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.44 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.536 |
| Deleterious probability by iFish2 | 0.9928 (Deleterious) |
| Deleterious probability by DeFine | 0.9598 (Deleterious) |
| Entrez Gene ID | 3868 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT16 (GeneCards) |
| Number of variants in KRT16 in this database | 1 (view all the variants) |
| Full name | keratin 16 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000133495 OMIM: 148067 HGNC: HGNC:6423 Ensembl: ENSG00000186832 |
| Other names | K16, PC1, CK16, K1CP, NEPPK, FNEPPK, KRT16A |
| Summary | The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.175 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |