| Variant ID | 29891 |
|---|---|
| Entrez Gene ID | 10921 |
| Gene | RNPS1 (GeneCards) |
| Location | hg19 16:2312406-2312406
hg38 16:2262405-2262405 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.2312406 G>C (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs139326604 |
| EIGEN score | 1.0593 |
| CADD Raw score (version 1.3) | 0.144277 (Deleterious) |
| FATHMM raw prediction score | 0.70969 (Tolerated) |
| Deleterious probability by DeFine | 0.839 (Deleterious) |
| Entrez Gene ID | 10921 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNPS1 (GeneCards) |
| Number of variants in RNPS1 in this database | 1 (view all the variants) |
| Full name | RNA binding protein with serine rich domain 1 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000128828 OMIM: 606447 HGNC: HGNC:10080 Ensembl: ENSG00000205937 |
| Other names | E5.1 |
| Summary | This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] |
| Individual ID | 28867142.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |