Variant Details for CTNND2
Basic Information Top
| Gene Symbol: | CTNND2 ( GT24,NPRAP ) |
|---|---|
| Gene Full Name: | catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) |
| Band: | 5p15.2 |
| Quick Links | Entrez ID:1501; OMIM: 604275; Uniprot ID:CTND2_HUMAN; ENSEMBL ID: ENSG00000169862; HGNC ID: 2516 |
| 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 | 14 | 2 | 0 | 1 | 0 | 0 | 17 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000329 | 5 | 5p15.2 | 9812613 | 11247741 | 1435128 | loss | external link | Harvard, 2005 |
| AutCNV0000020 | 5 | 5p15.1-15.2 | 9485490 | 15993000 | 6507510 | loss | external link | Szatmari, 2007 |
| AutCNV0000141 | 5 | 5p15.31-15.2 | 9222811 | 12652200 | 3429389 | loss | external link | Marshall, 2008 |
| AutCNV0000140 | 5 | 5p15.33-15.2 | 28949 | 13829933 | 13800984 | loss | external link | Marshall, 2008 |
| AutCNV0002529 | 5 | 5p15.2 | 11646533 | 11677173 | 30640 | loss | external link | Pinto, 2010 |
| AutCNV0001230 | 5 | 5p15.2 | 11882981 | 11953353 | 70372 | gain | external link | Pinto, 2010 |
| AutCNV0003202 | 5 | 5p15.2 | 11644503 | 11720017 | 75514 | loss | external link | Gai, 2011 |
| AutCNV0004243 | 5 | 5p15.2 | 11350359 | 11438117 | 87758 | loss | external link | Sanders, 2011 |
| AutCNV0004242 | 5 | 5p15.2 | 9222811 | 12652200 | 3429389 | loss | external link | Sanders, 2011 |
| AutCNV0004241 | 5 | 5p15.2-p15.33 | 28949 | 13829933 | 13800984 | loss | external link | Sanders, 2011 |
| AutCNV0003812 | 5 | 5p15.2 | 11350621 | 11440124 | 89503 | loss | external link | Levy, 2011 |
| AutCNV0003553 | 5 | 5p15.2 | 11416941 | 11459318 | 42377 | loss | external link | Gai, 2011 |
| AutCNV0004840 | 5 | 5p15.2 | loss | Asadollahi R, 2014 | ||||
| AutCNV0005807 | 5 | 5p15.2 | 11619568 | 12183983 | 564415 | gain | external link | Toma C, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 11405108 | G | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 0 | Redin C, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 11411650 | T | G | p.E146A | Y | deleterious | 0.9636 | Brett M, 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! | |||||||