Variant Details for SETBP1
Basic Information Top
| Gene Symbol: | SETBP1 ( DKFZp666J1210,KIAA0437,SEB ) |
|---|---|
| Gene Full Name: | SET binding protein 1 |
| Band: | 18q12.3 |
| Quick Links | Entrez ID:26040; OMIM: 611060; Uniprot ID:SETBP_HUMAN; ENSEMBL ID: ENSG00000152217; HGNC ID: 15573 |
| 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 | 1 | 0 | 1 | 5 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 42532021 | * | complex, +GG&-C | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 18 | 42531877 | G | A | Sanger sequencing | deleterious | 0.9873 | De Rubeis S, 2014 | ||
| 18 | 42532022 | C | G | PCR or Sanger sequencing | deleterious | 0.5912 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 44389636 | C | Y | p.Arg1588X | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000141 | 18q12.1-21.1 | 18 | D18S536/D18S970 | - | - | 0.0022 | Lauritsen, 2006 |