Variant Details for CDH8
Basic Information Top
| Gene Symbol: | CDH8 ( Nbla04261 ) |
|---|---|
| Gene Full Name: | cadherin 8, type 2 |
| Band: | 16q21 |
| Quick Links | Entrez ID:1006; OMIM: 603008; Uniprot ID:CADH8_HUMAN; ENSEMBL ID: ENSG00000150394; HGNC ID: 1767 |
| 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 | 4 | 0 | 0 | 3 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000275 | 16 | 16q13-22 | 55942499 | 74742499 | 18800000 | loss | external link | Wassink, 2001 |
| AutCNV0000124 | 16 | 16q21 | 61584199 | 63024099 | 1439900 | loss | external link | Szatmari, 2007 |
| AutCNV0000116 | 16 | 16q21 | 61584199 | 63024099 | 1439900 | loss | external link | Szatmari, 2007 |
| AutCNV0000839 | 16 | 16q21 | 61469656 | 63111475 | 1641819 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 62734882 | A | G | Doan RN, 2016 | |||||
| 16 | 63362431 | TA | CT | Doan RN, 2016 | |||||
| 16 | 63850387 | G | A | Doan RN, 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! | |||||||