Variant Details for SETD2
Basic Information Top
| Gene Symbol: | SETD2 ( FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HYPB,KIAA1732,KMT3A,SET2,p231HBP ) |
|---|---|
| Gene Full Name: | SET domain containing 2 |
| Band: | 3p21.31 |
| Quick Links | Entrez ID:29072; OMIM: 612778; Uniprot ID:SETD2_HUMAN; ENSEMBL ID: ENSG00000181555; HGNC ID: 18420 |
| 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 | 8 | 0 | 3 | 1 | 0 | 12 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 47098932 | * | 1D, -T | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 47166005 | T | W | p.Ile41Phe | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 47098932 | * | -T/* | p.Asn2114IlefsX33 | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 47161785 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 3 | 47164140 | T | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 3 | 47164140 | T | C | Fromer M, 2014 | |||||
| 3 | 47191001 | T | p.Ile41Phe | O'Roak BJ, 2012 | |||||
| 3 | 47123928 | p.Asn2114IlefsX33 | O'Roak BJ, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 47230392 | G | R | p.Gln7X | O'Roak BJ, 2012 | ||||
| 3 | 47189940 | A | W | p.Cys394X | O'Roak BJ, 2012 | ||||
| S2060P | Y | Alvarez-Mora MI, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 47164098 | c.2028delT | p.677LfsX19 | Y | Lumish HS, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||