| Variant ID | 29904 |
|---|---|
| Entrez Gene ID | 3881 |
| Gene | KRT31 (GeneCards) |
| Location | hg19 17:39551197-39551197
hg38 17:41394945-41394945 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.39551197 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | 0.683 |
| CADD Raw score (version 1.3) | 6.940414 (Deleterious) |
| FATHMM raw prediction score | 0.92138 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.756 (Deleterious) |
| MutatioinAssessor score | 3.765 (Deleterious) |
| PROVEAN score | -7.82 (Deleterious) |
| MetaSVM score | 1.076 (Deleterious) |
| MetaLR score | 0.881 (Deleterious) |
| MCAP score | 0.299 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.418 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.025 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.963 |
| Deleterious probability by iFish2 | 0.9348 (Deleterious) |
| Deleterious probability by DeFine | 0.9592 (Deleterious) |
| Entrez Gene ID | 3881 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRT31 (GeneCards) |
| Number of variants in KRT31 in this database | 1 (view all the variants) |
| Full name | keratin 31 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000133423 OMIM: 601077 HGNC: HGNC:6448 Ensembl: ENSG00000094796 |
| Other names | HA1, Ha-1, hHa1, KRTHA1 |
| Summary | The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |