| Variant ID | 29178 |
|---|---|
| Entrez Gene ID | 26151 |
| Gene | NAT9 (GeneCards) |
| Location | hg19 17:72769180-72769180
hg38 17:74773041-74773041 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.72769180 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | splicing |
|---|---|
| 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 | 1.1144 |
| CADD Raw score (version 1.3) | 5.09612 (Deleterious) |
| FATHMM raw prediction score | 0.97256 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.257 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.92 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.404 |
| Deleterious probability by DeFine | 0.966 (Deleterious) |
| Entrez Gene ID | 26151 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAT9 (GeneCards) |
| Number of variants in NAT9 in this database | 1 (view all the variants) |
| Full name | N-acetyltransferase 9 (putative) |
| Band | 17q25.1 |
| Other IDs | Vega: OTTHUMG00000178870 HGNC: HGNC:23133 Ensembl: ENSG00000109065 |
| Other names | EBSP, hNATL |
| Summary | None |
| Individual ID | 28503910.55 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |