Variant Details for NR2F1
Basic Information Top
| Gene Symbol: | NR2F1 ( COUP-TFI,EAR-3,EAR3,ERBAL3,NR2F2,SVP44,TCFCOUP1,TFCOUP1 ) |
|---|---|
| Gene Full Name: | nuclear receptor subfamily 2, group F, member 1 |
| Band: | 5q15 |
| Quick Links | Entrez ID:7025; OMIM: 132890; Uniprot ID:COT1_HUMAN; ENSEMBL ID: ENSG00000175745; HGNC ID: 7975 |
| 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 | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 92929487 | G | A | c.121G>1A | p.Arg404His | Sanger sequencing | deleterious | 0.9507 | Sanders SJ, 2012 |
| 5 | 92921034 | C | T | Sanger sequencing | deleterious | 0.9707 | De Rubeis S, 2014 | ||
| 5 | 92920811 | C | T | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||