Variant Details for PHF23
Basic Information Top
| Gene Symbol: | PHF23 ( FLJ16355,FLJ22884,MGC2941,hJUNE-1b ) |
|---|---|
| Gene Full Name: | PHD finger protein 23 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:79142; OMIM: 612910; Uniprot ID:PHF23_HUMAN; ENSEMBL ID: ENSG00000040633; HGNC ID: 28428 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004359 | 17 | 17p13.1-p13.2 | 6118115 | 7352163 | 1234048 | gain | external link | Sanders, 2011 |
| AutCNV0003856 | 17 | 17p13.2-p13.1 | 6091605 | 7353817 | 1262212 | gain | external link | Levy, 2011 |
| AutCNV0000732 | 17 | 17p13.2 | 4553251 | 7559275 | 3006024 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 7140735 | CCAAAACAAAAC | CCAAAAC | HiSeq X and Sanger | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000082 | 17p13.1 | 17 | D17S513 | 1.13 | - | - | Lamb, 2005 |