Variant Details for FOXD4
Basic Information Top
| Gene Symbol: | FOXD4 ( FKHL9,FOXD4A,FREAC5,MGC105106 ) |
|---|---|
| Gene Full Name: | forkhead box D4 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:2298; OMIM: 601092; Uniprot ID:FOXD4_HUMAN; ENSEMBL ID: ENSG00000170122; HGNC ID: 3805 |
| 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 | 1 | 0 | 0 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002707 | 9 | 9p24.3 | 102645 | 743353 | 640708 | gain | external link | Pinto, 2010 |
| AutCNV0000820 | 9 | 9p24.2-24.3 | 108998 | 3692923 | 3583925 | loss | external link | Pinto, 2010 |
| AutCNV0000814 | 9 | 9p24.3 | 108998 | 344508 | 235510 | loss | external link | Pinto, 2010 |
| AutCNV0004281 | 9 | 9p24.2-p24.3 | 108998 | 3692923 | 3583925 | loss | external link | Sanders, 2011 |
| AutCNV0004280 | 9 | 9p24.3 | 108998 | 344508 | 235510 | loss | external link | Sanders, 2011 |
| AutCNV0003287 | 9 | 9p24.3 | 46587 | 550782 | 504195 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 117998 | G | T | Sanger sequencing | neutral | 0.0156 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000146 | 9p24.3 | 9 | - | - | 3.44 | - | Allen-Brady, 2008 |