| Variant ID | 1459 |
|---|---|
| Entrez Gene ID | 55226 |
| Gene | NAT10 (GeneCards) |
| Location | hg19 11:34154632-34154632
hg38 11:34133085-34133085 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000011.9:g.34154632_34154632 del (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 | NM_001144030.1 |
| mRNA length | 3843 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.9648 (Deleterious) |
|---|
| Entrez Gene ID | 55226 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAT10 (GeneCards) |
| Number of variants in NAT10 in this database | 2 (view all the variants) |
| Full name | N-acetyltransferase 10 |
| Band | 11p13 |
| Other IDs | Vega: OTTHUMG00000166249 OMIM: 609221 HGNC: HGNC:29830 Ensembl: ENSG00000135372 |
| Other names | ALP, Kre33, NET43 |
| Summary | The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016] |
| Individual ID | 28867142.31 (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; |