Variant Details for ZNF557
Basic Information Top
| Gene Symbol: | ZNF557 ( FLJ96454,MGC4054 ) |
|---|---|
| Gene Full Name: | zinc finger protein 557 |
| Band: | 19p13.2 |
| Quick Links | Entrez ID:79230; OMIM: NA; Uniprot ID:ZN557_HUMAN; ENSEMBL ID: ENSG00000130544; HGNC ID: 28632 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002153 | 19 | 19p13.2-13.3 | 6895866 | 7105136 | 209270 | gain | external link | Pinto, 2010 |
| AutCNV0002152 | 19 | 19p13.2-13.3 | 6895866 | 7105136 | 209270 | gain | external link | Pinto, 2010 |
| AutCNV0002151 | 19 | 19p13.2-13.3 | 6895866 | 7105136 | 209270 | gain | external link | Pinto, 2010 |
| AutCNV0000916 | 19 | 19p13.2-13.3 | 6895866 | 7105136 | 209270 | gain | external link | Pinto, 2010 |
| AutCNV0000915 | 19 | 19p13.2-13.3 | 6895866 | 7105136 | 209270 | gain | external link | Pinto, 2010 |
| AutCNV0004009 | 19 | 19p13.2 | 7065696 | 7106638 | 40942 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 7083553 | C | A | Sanger sequencing | neutral | 0.0002 | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||