Variant Details for CSMD1
Basic Information Top
| Gene Symbol: | CSMD1 ( KIAA1890 ) |
|---|---|
| Gene Full Name: | CUB and Sushi multiple domains 1 |
| Band: | 8p23.2 |
| Quick Links | Entrez ID:64478; OMIM: 608397; Uniprot ID:CSMD1_HUMAN; ENSEMBL ID: ENSG00000183117; HGNC ID: 14026 |
| 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 | 23 | 8 | 0 | 3 | 0 | 0 | 34 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
| AutCNV0000250 | 8 | 8p23.3-23.2 | 10000 | 6212592 | 6202592 | loss | external link | Yu, 2002 |
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000023 | 8 | 8p23.1-23.3 | 1143493 | 6793540 | 5650047 | loss | external link | Szatmari, 2007 |
| AutCNV0000121 | 8 | 8p23.2 | 3922122 | 3922302 | 180 | gain | external link | Szatmari, 2007 |
| AutCNV0000081 | 8 | 8p23.2 | 4486442 | 5913202 | 1426760 | gain | external link | Szatmari, 2007 |
| AutCNV0000080 | 8 | 8p23.2 | 3922122 | 3922302 | 180 | gain | external link | Szatmari, 2007 |
| AutCNV0000079 | 8 | 8p23.2 | 3922122 | 4961902 | 1039780 | gain | external link | Szatmari, 2007 |
| AutCNV0001886 | 8 | 8p23.2 | 3332290 | 3508977 | 176687 | gain | external link | Pinto, 2010 |
| AutCNV0001488 | 8 | 8p23.2 | 4322454 | 4362726 | 40272 | loss | external link | Pinto, 2010 |
| AutCNV0002683 | 8 | 8p23.2 | 4285624 | 4322454 | 36830 | loss | external link | Pinto, 2010 |
| AutCNV0001885 | 8 | 8p23.2 | 2346899 | 3303471 | 956572 | gain | external link | Pinto, 2010 |
| AutCNV0001887 | 8 | 8p23.2 | 3620935 | 3660565 | 39630 | loss | external link | Pinto, 2010 |
| AutCNV0003616 | 8 | 8p23.2 | 3500026 | 3513465 | 13439 | loss | external link | Gai, 2011 |
| AutCNV0003272 | 8 | 8p23.2 | 4473133 | 4485248 | 12115 | loss | external link | Gai, 2011 |
| AutCNV0003271 | 8 | 8p23.2 | 4303418 | 4366666 | 63248 | loss | external link | Gai, 2011 |
| AutCNV0003270 | 8 | 8p23.2 | 4302217 | 4366666 | 64449 | loss | external link | Gai, 2011 |
| AutCNV0003269 | 8 | 8p23.2 | 3944168 | 4079405 | 135237 | loss | external link | Gai, 2011 |
| AutCNV0003268 | 8 | 8p23.2 | 3744634 | 3793600 | 48966 | loss | external link | Gai, 2011 |
| AutCNV0004535 | 8 | 8p23.2 | 3214902 | 3286599 | 71697 | loss | external link | Nord, 2011 |
| AutCNV0003267 | 8 | 8p23.2 | 2788108 | 3035854 | 247746 | gain | external link | Gai, 2011 |
| AutCNV0003266 | 8 | 8p23.2 | 2787218 | 3037530 | 250312 | gain | external link | Gai, 2011 |
| AutCNV0003816 | 8 | 8p23.2 | 3977882 | 4364086 | 386204 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 2965314 | T | C | p.Gln2254Arg | Sanger sequencing | neutral | 0.004 | Sanders SJ, 2012 | |
| 8 | 3265577 | C | T | Sanger sequencing | neutral | 0.0409 | De Rubeis S, 2014 | ||
| 8 | 5644364 | A | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 8 | 2954369 | A | G | c.7138+2T>C | Stessman HA, 2017 | ||||
| 8 | 3282096 | A | G | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 3885234 | G | T | Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 3905289 | G | C | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 4128797 | G | T | Sanger and Sequenom | Michaelson JJ, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 2800085 | C | T | p.G1374S | Y | neutral | 0.0151 | Brett M, 2014 | |
| 8 | 3253832 | C | T | Y | Cukier HN, 2014 | ||||
| 8 | 2965294 | G | C | Y | Cukier HN, 2014 |
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! | |||||||