Variant Details for ZNF813
Basic Information Top
| Gene Symbol: | ZNF813 ( FLJ16542,FLJ34141 ) |
|---|---|
| Gene Full Name: | zinc finger protein 813 |
| Band: | 19q13.42 |
| Quick Links | Entrez ID:126017; OMIM: NA; Uniprot ID:ZN813_HUMAN; ENSEMBL ID: ENSG00000198346; HGNC ID: 33257 |
| 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 | 10 | 2 | 0 | 0 | 0 | 1 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002290 | 19 | 19q13.41 | 53932295 | 54008019 | 75724 | loss | external link | Pinto, 2010 |
| AutCNV0002178 | 19 | 19q13.41 | 53932295 | 54011384 | 79089 | gain | external link | Pinto, 2010 |
| AutCNV0002177 | 19 | 19q13.41 | 53929687 | 54014178 | 84491 | gain | external link | Pinto, 2010 |
| AutCNV0002176 | 19 | 19q13.41 | 53929687 | 54011384 | 81697 | gain | external link | Pinto, 2010 |
| AutCNV0001157 | 19 | 19q13.41 | 53929687 | 54014178 | 84491 | gain | external link | Pinto, 2010 |
| AutCNV0001156 | 19 | 19q13.41 | 53929687 | 54014178 | 84491 | gain | external link | Pinto, 2010 |
| AutCNV0000897 | 19 | 19q13.41 | 53929687 | 54004939 | 75252 | gain | external link | Pinto, 2010 |
| AutCNV0002979 | 19 | 19q13.41 | 53932295 | 54005308 | 73013 | loss | external link | Pinto, 2010 |
| AutCNV0002978 | 19 | 19q13.41 | 53929687 | 54014178 | 84491 | gain | external link | Pinto, 2010 |
| AutCNV0002977 | 19 | 19q13.41 | 53929687 | 54014178 | 84491 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 53994750 | A | C | c.1264A>C | p.Lys422Gln | Sanger sequencing | neutral | 0.0007 | Neale BM, 2012 |
| 19 | 53994750 | A | C | Sanger sequencing | neutral | 0.0007 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000119 | 19q13.33-13.41 | 19 | - | - | 1.64 | - | Spence, 2006 |