| Variant ID | 29459 |
|---|---|
| Entrez Gene ID | 387264 |
| Gene | KRTAP5-1 (GeneCards) |
| Location | hg19 11:1606038-1606038
hg38 11:1584808-1584808 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.1606038 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7242 |
| CADD Raw score (version 1.3) | 2.010713 (Deleterious) |
| FATHMM raw prediction score | 0.00623 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.6 (Deleterious) |
| PROVEAN score | -0.72 (Tolerated) |
| MetaSVM score | -0.977 (Tolerated) |
| MetaLR score | 0.018 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.516 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.03 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.022 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.34 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.193 |
| Deleterious probability by iFish2 | 0.0956 (Neutral) |
| Deleterious probability by DeFine | 0.8143 (Deleterious) |
| Entrez Gene ID | 387264 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRTAP5-1 (GeneCards) |
| Number of variants in KRTAP5-1 in this database | 1 (view all the variants) |
| Full name | keratin associated protein 5-1 |
| Band | 11p15.5 |
| Other IDs | Vega: OTTHUMG00000057557 OMIM: 148022 HGNC: HGNC:23596 Ensembl: ENSG00000205869 |
| Other names | KRN1L, KRTAP5.1 |
| Summary | None |
| Individual ID | 28714951.135 (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; |