Variant Details for DSCAM
Basic Information Top
| Gene Symbol: | DSCAM ( CHD2-42,CHD2-52 ) |
|---|---|
| Gene Full Name: | Down syndrome cell adhesion molecule |
| Band: | 21q22.2 |
| Quick Links | Entrez ID:1826; OMIM: 602523; Uniprot ID:DSCAM_HUMAN; ENSEMBL ID: ENSG00000171587; HGNC ID: 3039 |
| 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 | 8 | 2 | 18 | 0 | 0 | 30 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000134 | 21 | 21q22 | 39154938 | 47152380 | 7997442 | loss | external link | Jacquemont, 2006 |
| AutCNV0005636 | 21 | 21 | Krumm N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 41648022 | A | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 21 | 41414330 | A | AT | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 21 | 41457640 | T | TTA | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 21 | 41457527 | A | T | c.4132+2T>A | PCR and Sanger sequencing | O'Roak BJ, 2014 | |||
| 21 | 42016189 | molecular inversion probe rese | Turner TN, 2016 | ||||||
| 21 | 41719739 | AG | A | c.1067del | p.Pro356Leufs*5 | Sanger sequencing | Wang T, 2016 | ||
| 21 | 41446967 | G | G/A | c.4885C>T | p.Arg1629* | Sanger sequencing | Wang T, 2016 | ||
| 21 | 41414453 | G | A/G | Sanger sequencing | deleterious | 0.9125 | Wang T, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 21 | 41684236 | G | A | mosaic | PASM | Dou Y, 2017 |
| 21 | 41550838 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 41414459 | G | A/G | Y | Wang T, 2016 | ||||
| 21 | 41450679 | C | C/T | Y | Wang T, 2016 | ||||
| 21 | 41452148 | G | C/G | Y | Wang T, 2016 | ||||
| 21 | 41457647 | G | C/G | Y | Wang T, 2016 | ||||
| 21 | 41465723 | C | C/T | Y | Wang T, 2016 | ||||
| 21 | 41514487 | C | A/C | Y | Wang T, 2016 | ||||
| 21 | 41514571 | A | A/G | Y | Wang T, 2016 | ||||
| 21 | 41550907 | C | C/T | Y | Wang T, 2016 | ||||
| 21 | 41719630 | A | A/C | Y | Wang T, 2016 | ||||
| 21 | 41385061 | C | C/T | Y | Wang T, 2016 | ||||
| 21 | 41450767 | C | C/T | Y | Wang T, 2016 | ||||
| 21 | 41452080 | T | G/T | Y | Wang T, 2016 | ||||
| 21 | 41416053 | C | C/G | Y | Wang T, 2016 | ||||
| 21 | 41539180 | G | A/G | Y | Wang T, 2016 | ||||
| 21 | 41684227 | T | C/T | Y | Wang T, 2016 | ||||
| 21 | 41711143 | G | G/T | Y | Wang T, 2016 | ||||
| 21 | 41719720 | T | C/T | Y | Wang T, 2016 | ||||
| 21 | 42080494 | T | C/T | Y | Wang T, 2016 |
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! | |||||||