Variant Details for CHD2
Basic Information Top
| Gene Symbol: | CHD2 ( DKFZp547I1315,DKFZp686E01200,DKFZp781D1727,FLJ38614 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 2 |
| Band: | 15q26.1 |
| Quick Links | Entrez ID:1106; OMIM: 602119; Uniprot ID:CHD2_HUMAN; ENSEMBL ID: ENSG00000173575; HGNC ID: 1917 |
| 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 | 9 | 15 | 2 | 11 | 1 | 1 | 39 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000292 | 15 | 15q25-26.3 | 78312945 | 102521392 | 24208447 | gain | external link | Bonati, 2005 |
| AutCNV0000112 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000029 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000825 | 15 | 15q26.1 | 93399003 | 93482000 | 82997 | loss | external link | Pinto, 2010 |
| AutCNV0004324 | 15 | 15q26.1 | 93399003 | 93482000 | 82997 | loss | external link | Sanders, 2011 |
| AutCNV0005635 | 15 | 15 | Krumm N, 2015 | |||||
| AutCNV0005923 | 15 | 15q26.1 | 93484238 | 93488628 | 4390 | loss | external link | Brandler WM, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 93518170 | A | G | c.2567A>G | p.Asp856Gly | Sanger sequencing | deleterious | 0.9766 | Neale BM, 2012 |
| 15 | 93524060 | TAAAG | T | PCR amplification and Sanger s | Dong S, 2014 | ||||
| 15 | 93518170 | A | G | Sanger sequencing | deleterious | 0.9766 | De Rubeis S, 2014 | ||
| 15 | 93524620 | G | A | Sanger sequencing | deleterious | 0.8988 | De Rubeis S, 2014 | ||
| 15 | 93536154 | G | A | Sanger sequencing | deleterious | 0.7143 | De Rubeis S, 2014 | ||
| 15 | 93524060 | TAAAG | T | c.2893_2896delAAAG | p.Glu966SerfsTer2 | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 15 | 93563244 | C | T | c.4909C>T | p.Arg1637Ter | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 15 | 93563256 | C | T | c.4921C>T | p.Gln1641Ter | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 15 | 93563282 | T | TG | c.4947_4948insG | p.Gly1651TrpfsTer16 | PCR and Sanger sequencing | O'Roak BJ, 2014 | ||
| 15 | 93563389 | G | A/G | c.5054G>A | p.Arg1685His | Sanger sequencing | deleterious | 0.8427 | Wang T, 2016 |
| 15 | 93521585 | A | c.2693G>A | p.Arg898Gln | Stessman HA, 2017 | ||||
| 15 | 93552420 | G | A | c.4459G>A | deleterious | 0.8625 | Stessman HA, 2017 | ||
| 15 | 93485051 | G | T | c.693-1G>T | NA | Sanger sequencing | Takata A, 2018 | ||
| 15 | 93510727 | C | T | c.2173C>T | p.Gln725* | Sanger sequencing | Takata A, 2018 | ||
| 0 | c.1551delC | p.Gln518Argfs | Bowling KM, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 15 | 93467760 | A | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 15 | 93467760 | A | G | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 93540325 | A | - | c.3734delA | p.Lys1245fs | Bi C, 2012 | |||
| 15 | 93482850 | G | C/G | Y | Wang T, 2016 | ||||
| 15 | 93496650 | C | C/G | Y | Wang T, 2016 | ||||
| 15 | 93528788 | G | C/G | Y | Wang T, 2016 | ||||
| 15 | 93567680 | G | A/G | Y | Wang T, 2016 | ||||
| 15 | 93467570 | G | A/G | Y | Wang T, 2016 | ||||
| 15 | 93486100 | C | C/T | Y | Wang T, 2016 | ||||
| 15 | 93496635 | C | C/G | Y | Wang T, 2016 | ||||
| 15 | 93540500 | G | A/G | Y | Wang T, 2016 | ||||
| 15 | 93543766 | C | C/T | Y | Wang T, 2016 | ||||
| 15 | 93567783 | C | C/G | Y | Wang T, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 15 | c.4173dup | p.Gln1392Thrfs?17 | Y | Pinto AM, 2015 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000052 | 15q26.1 | 15 | D15S652 | 2.26 | - | - | Risch, 1999 |