Variant Details for NOS1AP
Basic Information Top
| Gene Symbol: | NOS1AP ( 6330408P19Rik,CAPON,MGC138500 ) |
|---|---|
| Gene Full Name: | nitric oxide synthase 1 (neuronal) adaptor protein |
| Band: | 1q23.3 |
| Quick Links | Entrez ID:9722; OMIM: 605551; Uniprot ID:CAPON_HUMAN; ENSEMBL ID: ENSG00000198929; HGNC ID: 16859 |
| 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 | 2 | 0 | 0 | 0 | 1 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000053 | 1 | 1q23.3 | 162169342 | 162867342 | 698000 | gain | external link | Szatmari, 2007 |
| AutCNV0000052 | 1 | 1q23.3 | 162169342 | 162358342 | 189000 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Delorme, 2010 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000104 | 1q23.3 | 1 | D1S1677 | - | 2.25 | - | Ylisaukko-oja, 2006 |