| Variant ID | 1519 |
|---|---|
| Entrez Gene ID | 5511 |
| Gene | PPP1R8 (GeneCards) |
| Location | hg19 1:28169828-28169828
hg38 1:27843317-27843317 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000001.10:g.28169828_28169828 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_014110.4 |
| mRNA length | 2377 |
| Reference length | 249250621 |
| Deleterious probability by DeFine | 0.8893 (Deleterious) |
|---|
| Entrez Gene ID | 5511 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP1R8 (GeneCards) |
| Number of variants in PPP1R8 in this database | 2 (view all the variants) |
| Full name | protein phosphatase 1 regulatory subunit 8 |
| Band | 1p35.3 |
| Other IDs | Vega: OTTHUMG00000003734 OMIM: 602636 HGNC: HGNC:9296 Ensembl: ENSG00000117751 |
| Other names | ARD1, ARD-1, NIPP1, NIPP-1, PRO2047 |
| Summary | This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.30 (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; |