Variant Details for FOXG1
Basic Information Top
| Gene Symbol: | FOXG1 ( BF1,BF2,FHKL3,FKH2,FKHL1,FKHL2,FKHL3,FKHL4,FOXG1A,FOXG1B,FOXG1C,HBF-1,HBF-2,HBF-3,HBF-G2,HBF2,HFK1,HFK2,HFK3,KHL2,QIN ) |
|---|---|
| Gene Full Name: | forkhead box G1 |
| Band: | 14q12 |
| Quick Links | Entrez ID:2290; OMIM: 164874; Uniprot ID:FOXG1_HUMAN; ENSEMBL ID: ENSG00000176165; HGNC ID: 3811 |
| 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 | 4 | 0 | 1 | 0 | 3 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005113 | 6 | 6p21.32 | 32509357 | 32556530 | 47173 | gain | external link | Kanduri C, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 29237624 | C | T | Sanger sequencing | deleterious | 0.9619 | De Rubeis S, 2014 | ||
| 14 | 29237631 | C | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 14 | 29237726 | C | A | Sanger sequencing | neutral | 0.2997 | De Rubeis S, 2014 | ||
| 0 | c.553A>T | p.Ser185Cys | Bowling KM, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| P486S | Y | Alvarez-Mora MI, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000025 | 14q12 | 14 | D14S80 | 2.32 | - | - | Bailey, 1998 |
| AutLD0000043 | 14q12 | 14 | D14S297 | 1.6 | - | - | Auranen, 2002 |
| AutLD0000103 | 14q12 | 14 | rs2877739 | 2.82 | - | - | Ma, 2007 |