Variant Details for SUPT16H
Basic Information Top
| Gene Symbol: | SUPT16H ( CDC68,FACTP140,FLJ10857,FLJ14010,FLJ34357,SPT16/CDC68 ) |
|---|---|
| Gene Full Name: | suppressor of Ty 16 homolog (S. cerevisiae) |
| Band: | 14q11.2 |
| Quick Links | Entrez ID:11198; OMIM: 605012; Uniprot ID:SP16H_HUMAN; ENSEMBL ID: ENSG00000092201; HGNC ID: 11465 |
| 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 | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004890 | 14 | 14q11.2 | 21823852 | 21937621 | 113769 | loss | external link | Prontera P, 2014 |
| AutCNV0005159 | 16 | 16p13.11 | 15048751 | 16305736 | 1256985 | gain | external link | Pinto AM, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 21828671 | C | T | c.2078G>A | p.Arg693Gln | Sanger sequencing | deleterious | 0.9061 | 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! | |||||||