Variant Details for PLXNA3
Basic Information Top
| Gene Symbol: | PLXNA3 ( 6.3,HSSEXGENE,PLEXIN-A3,PLXN3,PLXN4,SEX,XAP-6 ) |
|---|---|
| Gene Full Name: | plexin A3 |
| Band: | Xq28 |
| Quick Links | Entrez ID:55558; OMIM: 300022; Uniprot ID:PLXA3_HUMAN; ENSEMBL ID: ENSG00000130827; HGNC ID: 9101 |
| 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 | 1 | 0 | 2 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001526 | X | Xq28 | 153609963 | 153821207 | 211244 | gain | external link | Pinto, 2010 |
| AutCNV0003870 | X | 23q28 | 153576690 | 153779907 | 203217 | gain | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 153692845 | G | A | Sanger | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 153701511 | G | A | c.*483G>A | Nava C, 2012 | ||||
| X | 153694155 | A | T | c.C1139A | p.P380Q | Li J, 2017 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||