Variant Details for PLXNA4
Basic Information Top
| Gene Symbol: | PLXNA4 ( DKFZp434G0625,DKFZp566O0546,FAYV2820,FLJ35026,FLJ38287,KIAA1550,PLEXA4,PLXNA4A,PLXNA4B,PRO34003 ) |
|---|---|
| Gene Full Name: | plexin A4 |
| Band: | 7q32.3 |
| Quick Links | Entrez ID:91584; OMIM: 604280; Uniprot ID:PLXA4_HUMAN; ENSEMBL ID: ENSG00000221866; HGNC ID: 9102 |
| 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 | 2 | 0 | 0 | 3 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001872 | 7 | 7q32.3 | 131602264 | 131911231 | 308967 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|
| 7 | 131913232 | G | A | mosaic | PASM | Dou Y, 2017 |
| 7 | 131825445 | G | A | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000077 | 7q32.1-32.3 | 7 | D7S530/D7S640 | 2.31 | - | - | Lamb, 2005 |
| AutLD0000065 | 7q32 | 7 | D7S530 | - | - | 0.0006 | Schellenberg, 2006 |
| AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |