Variant Details for ZNF804B
Basic Information Top
| Gene Symbol: | ZNF804B ( FLJ32110 ) |
|---|---|
| Gene Full Name: | zinc finger protein 804B |
| Band: | 7q21.13 |
| Quick Links | Entrez ID:219578; OMIM: NA; Uniprot ID:Z804B_HUMAN; ENSEMBL ID: ENSG00000182348; HGNC ID: 21958 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000248 | 7 | 7q21.13 | 88162064 | 91062064 | 2900000 | loss | external link | Yu, 2002 |
| AutCNV0000022 | 7 | 7q21.12-21.13 | 88192649 | 89487849 | 1295200 | gain | external link | Szatmari, 2007 |
| AutCNV0000215 | 7 | 7q21.13 | 88122112 | 88736358 | 614246 | gain | external link | Christian, 2008 |
| AutCNV0002656 | 7 | 7q21.13 | 88852488 | 89422636 | 570148 | gain | external link | Pinto, 2010 |
| AutCNV0001862 | 7 | 7q21.13 | 88859261 | 89422636 | 563375 | gain | external link | Pinto, 2010 |
| AutCNV0001861 | 7 | 7q21.12-21.13 | 88148465 | 89883129 | 1734664 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 88963885 | A | T | c.1589GAT>GTT | p.530D>V | neutral | 0.3791 | Fromer M, 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! | |||||||