Variant Details for FOXP2
Basic Information Top
| Gene Symbol: | FOXP2 ( CAGH44,DKFZp686H1726,SPCH1,TNRC10 ) |
|---|---|
| Gene Full Name: | forkhead box P2 |
| Band: | 7q31.1 |
| Quick Links | Entrez ID:93986; OMIM: 605317; Uniprot ID:FOXP2_HUMAN; ENSEMBL ID: ENSG00000128573; HGNC ID: 13875 |
| 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 | 6 | 0 | 0 | 2 | 2 | 1 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000143 | 7 | 7q31.1-32.2 | 113741049 | 129227770 | 15486721 | loss | external link | Marshall, 2008 |
| AutCNV0000142 | 7 | 7q31.1-31.31 | 108606430 | 119629936 | 11023506 | loss | external link | Marshall, 2008 |
| AutCNV0000511 | 7 | 7q31.1 | 113654781 | 114051204 | 396423 | gain | external link | Gregory, 2009 |
| AutCNV0000510 | 7 | 7q31.1 | 113541536 | 113964668 | 423132 | gain | external link | Gregory, 2009 |
| AutCNV0004269 | 7 | 7q31.1-q32.1 | 113547764 | 129034485 | 15486721 | loss | external link | Sanders, 2011 |
| AutCNV0004266 | 7 | 7q31.1-q31.31 | 108413145 | 119436651 | 11023506 | loss | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 114482412 | * | +T/* | p.Leu135PhefsX148 | O'Roak BJ, 2012 | ||||
| Q142H | Y | Alvarez-Mora MI, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Li, 2005 | |||||||||
| Laroche, 2008 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000058 | 7q31.1 | 7 | D7S523 | 1.02 | - | - | Liu, 2001 |