Variant Details for NFIA
Basic Information Top
| Gene Symbol: | NFIA ( DKFZp434L0422,DKFZp686J23256,FLJ39164,KIAA1439,NFI-L ) |
|---|---|
| Gene Full Name: | nuclear factor I/A |
| Band: | 1p31.3 |
| Quick Links | Entrez ID:4774; OMIM: 600727; Uniprot ID:NFIA_HUMAN; ENSEMBL ID: ENSG00000162599; HGNC ID: 7784 |
| 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 | 3 | 0 | 2 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000050 | 1 | 1p31.3-32.1 | 60917079 | 61637979 | 720900 | gain | external link | Szatmari, 2007 |
| AutCNV0000049 | 1 | 1p31.3-32.1 | 60677479 | 61637979 | 960500 | gain | external link | Szatmari, 2007 |
| AutCNV0004442 | 1 | 1p31.3 | 61700567 | 62126218 | 425651 | gain | external link | Nord, 2011 |
| AutCNV0004188 | 1 | 1p31.3 | 61880686 | 62134264 | 253578 | gain | external link | Sanders, 2011 |
| AutCNV0003458 | 1 | 1p31.3 | 61704363 | 62126262 | 421899 | gain | external link | Gai, 2011 |
| AutCNV0003457 | 1 | 1p31.3 | 61700259 | 62129132 | 428873 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 61553905 | C | T | PCR and MiSeq | Iossifov I, 2012 | ||||
| 1 | 61818236 | C | T | c.950C>T | p.Thr317Met | PCR and Sanger sequencing | neutral | 0.0311 | O'Roak BJ, 2014 |
| 1 | 61818236 | C | T | p.Thr317Met | Sanger | neutral | 0.0311 | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 61762918 | G | - | Doan RN, 2016 | |||||
| 1 | 61989854 | - | T | Doan RN, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||