Variant Details for PHF8
Basic Information Top
| Gene Symbol: | PHF8 ( DKFZp686E0868,JHDM1F,KIAA1111,MRXSSD,ZNF422 ) |
|---|---|
| Gene Full Name: | PHD finger protein 8 |
| Band: | Xp11.22 |
| Quick Links | Entrez ID:23133; OMIM: 300560; Uniprot ID:PHF8_HUMAN; ENSEMBL ID: ENSG00000172943; HGNC ID: 20672 |
| 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 | 4 | 1 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000302 | X | Xp11.22 | 54003979 | 54475979 | 472000 | loss | external link | Qiao, 2008 |
| AutCNV0000714 | X | Xp11.22-p11.23 | 47415056 | 54683275 | 7268219 | gain | external link | Edens, 2011 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
| AutCNV0004880 | X | Xp11.2 | 54483458 | 54506914 | 23456 | loss | external link | De Wolf V, 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 54037669 | G | A | PCR or Sanger sequencing | neutral | 0.0974 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 53966801 | c.2904_2906del | p.Ser969del | Nava C, 2012 |
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! | |||||||