Variant Details for SETD5
Basic Information Top
| Gene Symbol: | SETD5 ( DKFZp686J18276,FLJ10707,KIAA1757 ) |
|---|---|
| Gene Full Name: | SET domain containing 5 |
| Band: | 3p25.3 |
| Quick Links | Entrez ID:55209; OMIM: NA; Uniprot ID:SETD5_HUMAN; ENSEMBL ID: ENSG00000168137; HGNC ID: 25566 |
| 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 | 7 | 0 | 0 | 0 | 3 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000729 | 3 | 3p25.3-pter | 60000 | 10093676 | 10033676 | gain | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 9486949 | G | A | c.1405G>A | p.Val469Ile | Sanger sequencing | neutral | 0.0772 | Neale BM, 2012 |
| 3 | 9483388 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 3 | 9486949 | G | A | Sanger sequencing | neutral | 0.0772 | De Rubeis S, 2014 | ||
| 3 | 9517219 | G | C | Sanger sequencing | deleterious | 0.7084 | De Rubeis S, 2014 | ||
| 3 | 9477532 | A | G | c.509A>G | p.Lys170Arg | PCR and Sanger sequencing | deleterious | 0.9636 | O'Roak BJ, 2014 |
| 3 | 9517475 | T | G | c.4029T>G | p.Ser1343Arg | PCR and Sanger sequencing | deleterious | 0.4971 | O'Roak BJ, 2014 |
| 3 | 9483895 | A | c.749G>A | p.Arg250Gln | Stessman HA, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000120 | 3p25.3 | 3 | D3S3680 | 1.51 | - | - | Shao, 2002 |
| AutLD0000001 | 3p25.3 | 3 | D3S3691 | 1.76 | - | - | McCauley, 2005 |
| AutLD0000128 | 3p25.3 | 3 | D3S3594 | - | - | 0.00007 | Lauritsen, 2006 |