| Variant ID | 29860 |
|---|---|
| Entrez Gene ID | 3889 |
| Gene | KRT83 (GeneCards) |
| Location | hg19 12:52710275-52710275
hg38 12:52316491-52316491 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.52710275 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006467 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5841284 |
| Variant occurences in COSMIC | 1(NS) |
| EIGEN score | 0.5479 |
| CADD Raw score (version 1.3) | 5.835444 (Deleterious) |
| FATHMM raw prediction score | 0.99472 (Tolerated) |
| SIFT score | 0.02 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.44 (Deleterious) |
| PROVEAN score | -3.37 (Deleterious) |
| MetaSVM score | 0.181 (Deleterious) |
| MetaLR score | 0.49 (Tolerated) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.937 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.229 |
| Deleterious probability by iFish2 | 0.7289 (Deleterious) |
| Deleterious probability by DeFine | 0.902 (Deleterious) |
| Entrez Gene ID | 3889 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT83 (GeneCards) |
| Number of variants in KRT83 in this database | 2 (view all the variants) |
| Full name | keratin 83 |
| Band | 12q13.13 |
| Other IDs | Vega: OTTHUMG00000169632 OMIM: 602765 HGNC: HGNC:6460 Ensembl: ENSG00000170523 |
| Other names | HB3, Hb-3, EKVP5, MNLIX, KRTHB3 |
| Summary | The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |