Variant Details for RNPS1
Basic Information Top
| Gene Symbol: | RNPS1 ( E5.1,MGC117332 ) |
|---|---|
| Gene Full Name: | RNA binding protein S1, serine-rich domain |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:10921; OMIM: 606447; Uniprot ID:RNPS1_HUMAN; ENSEMBL ID: ENSG00000205937; HGNC ID: 10080 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 0 | 1 | 0 | 0 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004679 | 16 | 16p13.3 | 2088391 | 2415016 | 326625 | gain | external link | Gazzellone MJ, 2014 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|