Variant Details for ZNF595
Basic Information Top
| Gene Symbol: | ZNF595 ( FLJ31740 ) |
|---|---|
| Gene Full Name: | zinc finger protein 595 |
| Band: | 4p16.3 |
| Quick Links | Entrez ID:152687; OMIM: NA; Uniprot ID:Q7Z3I0_HUMAN; ENSEMBL ID: ENSG00000197701; HGNC ID: 27196 |
| 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 | 1 | 0 | 0 | 1 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003090 | 4 | 4p16.3 | 17764 | 134851 | 117087 | gain | external link | Pinto, 2010 |
| AutCNV0002569 | 4 | 4p16.3 | 17764 | 134851 | 117087 | gain | external link | Pinto, 2010 |
| AutCNV0001785 | 4 | 4p16.3 | 17764 | 127452 | 109688 | gain | external link | Pinto, 2010 |
| AutCNV0001693 | 4 | 4p16.3 | 94380 | 252804 | 158424 | gain | external link | Pinto, 2010 |
| AutCNV0001025 | 4 | 4p16.3 | 127452 | 183278 | 55826 | loss | external link | Pinto, 2010 |
| AutCNV0004234 | 4 | 4p16.2-p16.3 | 45410 | 3541587 | 3496177 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 85969 | G | GA | Y | ebel RA, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 4 | 59964 | T | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000019 | 4p16.3 | 4 | D4S2936 | 1.52 | - | - | Bailey, 1998 |