Variant Details for FOXP1
Basic Information Top
| Gene Symbol: | FOXP1 ( 12CC4,FLJ23741,MGC12942,MGC88572,MGC99551,QRF1,hFKH1B ) |
|---|---|
| Gene Full Name: | forkhead box P1 |
| Band: | 3p13 |
| Quick Links | Entrez ID:27086; OMIM: 605515; Uniprot ID:FOXP1_HUMAN; ENSEMBL ID: ENSG00000114861; HGNC ID: 3823 |
| 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 | 4 | 0 | 5 | 5 | 0 | 16 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003805 | 3 | 3p14.1-p13 | 67136778 | 72259085 | 5122307 | loss | external link | Levy, 2011 |
| AutCNV0004225 | 3 | 3p13-p14.1 | 67140582 | 72273331 | 5132749 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 71050170 | p.Ala339SerfsX4 | Sanger sequencing | O'Roak BJ, 2011 | |||||
| 3 | 71019886 | CTGTAAAGCTGCACTGTAAAGCTGCAT | c.1757_1770delATGCAGCTTTACAGinsATGCA | p.Ala591CysfsTer9 | Stessman HA, 2017 | ||||
| 3 | 71344697 | C | T | Sequenom | Michaelson JJ, 2012 | ||||
| 3 | 71027145 | G | GGACTT | Chen R, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 71102908 | G | C | p.A100G | Y | deleterious | 0.926 | Brett M, 2014 | |
| 3 | 70299736 | T | A | Doan RN, 2016 | |||||
| 3 | 70351851 | C | G | Doan RN, 2016 | |||||
| 3 | 70351995 | C | T | Doan RN, 2016 | |||||
| 3 | 70779145 | TTAAG | - | Doan RN, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| c.1267_1268delGT | p.V423Hfs*37 | Y | Lozano R, 2015 | ||||||
| 3 | 71026829 | c.1393A>G | p.R465G | Sollis E, 2016 | |||||
| 3 | 71021818 | c.1540C>T | p.R514C | Sollis E, 2016 | |||||
| 3 | 71027010 | c.1317C>G | p.Y439* | Sollis E, 2016 | |||||
| Hamdan, 2010 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||