Variant Details for NSUN7
Basic Information Top
| Gene Symbol: | NSUN7 ( FLJ14001 ) |
|---|---|
| Gene Full Name: | NOP2/Sun domain family, member 7 |
| Band: | 4p14 |
| Quick Links | Entrez ID:79730; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000179299; HGNC ID: 25857 |
| 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 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001701 | 4 | 4p14 | 40683976 | 40780364 | 96388 | gain | external link | Pinto, 2010 |
| AutCNV0001700 | 4 | 4p14 | 40683976 | 40780364 | 96388 | gain | external link | Pinto, 2010 |
| AutCNV0001699 | 4 | 4p14 | 40681370 | 40780364 | 98994 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 40762471 | A | C | c.319A>C | p.Ile107Leu | Sanger sequencing | deleterious | 0.8135 | Sanders SJ, 2012 |
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! | |||||||