Variant Details for DISC1
Basic Information Top
| Gene Symbol: | DISC1 ( C1orf136,FLJ13381,FLJ21640,FLJ25311,FLJ41105,KIAA0457,SCZD9 ) |
|---|---|
| Gene Full Name: | disrupted in schizophrenia 1 |
| Band: | 1q42.2 |
| Quick Links | Entrez ID:27185; OMIM: 605210; Uniprot ID:DISC1_HUMAN; ENSEMBL ID: ENSG00000162946; HGNC ID: 2888 |
| 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 | 7 | 2 | 1 | 0 | 2 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001186 | 1 | 1q42.2 | 231710453 | 231813134 | 102681 | gain | external link | Pinto, 2010 |
| AutCNV0000773 | 1 | 1q42.2 | 231911011 | 231948821 | 37810 | gain | external link | Pinto, 2010 |
| AutCNV0002353 | 1 | 1q42.2 | 231710453 | 231808282 | 97829 | gain | external link | Pinto, 2010 |
| AutCNV0001574 | 1 | 1q42.2 | 231710453 | 231813134 | 102681 | gain | external link | Pinto, 2010 |
| AutCNV0003465 | 1 | 1q42.2 | 231899704 | 231960352 | 60648 | loss | external link | Gai, 2011 |
| AutCNV0004671 | 1 | 1q42.1 | gain | Kousoulidou L, 2013 | ||||
| AutCNV0005110 | 1 | 1p13.3 | 110133772 | 110441792 | 308020 | gain | external link | Kanduri C, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 231829616 | C | T | c.112C>T | p.Arg38Trp | Sanger sequencing | neutral | 0.0601 | Sanders SJ, 2012 |
| 1 | 231828151 | molecular inversion probe rese | Turner TN, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 231935948 | C | G | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Williams, 2009 | |||||||||
| Crepel, 2009 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||