Variant Details for NSD1
Basic Information Top
| Gene Symbol: | NSD1 ( ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO ) |
|---|---|
| Gene Full Name: | nuclear receptor binding SET domain protein 1 |
| Band: | 5q35.3 |
| Quick Links | Entrez ID:64324; OMIM: 606681; Uniprot ID:NSD1_HUMAN; ENSEMBL ID: ENSG00000165671; HGNC ID: 14234 |
| 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 | 2 | 0 | 1 | 1 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004248 | 5 | 5q35.2-q35.3 | 175559839 | 177426530 | 1866691 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 176684041 | T | C | Sanger sequencing | deleterious | 0.8708 | De Rubeis S, 2014 | ||
| 5 | 176636717 | C | T | HiSeq X and Sanger | C Yuen RK, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 176638672 | T | G | c.3272T>G | p.Leu1091Arg | deleterious | 0.8653 | Bi C, 2012 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Buxbaum, 2007 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||