| Variant ID | 29823 |
|---|---|
| Entrez Gene ID | 6194 |
| Gene | RPS6 (GeneCards) |
| Location | hg19 9:19378427-19378427
hg38 9:19378429-19378429 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.19378427 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5902 |
| CADD Raw score (version 1.3) | 1.34656 (Deleterious) |
| FATHMM raw prediction score | 0.95466 (Tolerated) |
| Deleterious probability by DeFine | 0.9042 (Deleterious) |
| Entrez Gene ID | 6194 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPS6 (GeneCards) |
| Number of variants in RPS6 in this database | 1 (view all the variants) |
| Full name | ribosomal protein S6 |
| Band | 9p22.1 |
| Other IDs | Vega: OTTHUMG00000019642 OMIM: 180460 HGNC: HGNC:10429 Ensembl: ENSG00000137154 |
| Other names | S6 |
| Summary | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.74 (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; |