Variant Details for ZNF423
Basic Information Top
| Gene Symbol: | ZNF423 ( Ebfaz,KIAA0760,MGC138520,MGC138522,OAZ,Roaz,ZFP423,Zfp104 ) |
|---|---|
| Gene Full Name: | zinc finger protein 423 |
| Band: | 16q12.1 |
| Quick Links | Entrez ID:23090; OMIM: 604557; Uniprot ID:ZN423_HUMAN; ENSEMBL ID: ENSG00000102935; HGNC ID: 16762 |
| 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 | 1 | 5 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005850 | 16 | 16q12.1 | 47911712 | 48519007 | 607295 | gain | external link | Egger G, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 49670329 | G | A | Sanger sequencing | neutral | 0.2223 | De Rubeis S, 2014 | ||
| 16 | 49671585 | T | C | Sanger sequencing | deleterious | 0.6674 | De Rubeis S, 2014 | ||
| 16 | 49672661 | C | G | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 16 | 49670329 | G | A | c.2554CGG>TGG | p.852R>W | neutral | 0.2223 | Fromer M, 2014 | |
| 16 | 49671585 | T | C | c.1298AAT>AGT | p.433N>S | deleterious | 0.6674 | 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! | |||||||