Variant Details for ZNF638
Basic Information Top
Gene Symbol: | ZNF638 ( DKFZp686P1231,MGC26130,MGC90196,NP220,ZFML,Zfp638 ) |
---|---|
Gene Full Name: | zinc finger protein 638 |
Band: | 2p13.3-p13.2 |
Quick Links | Entrez ID:27332; OMIM: NA; Uniprot ID:ZN638_HUMAN; ENSEMBL ID: ENSG00000075292; HGNC ID: 17894 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 4 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
2 | 71635358 | C | G | c.3242C>G | p.Pro1081Arg | Sanger sequencing | neutral | 0.0139 | Neale BM, 2012 |
2 | 71635358 | C | G | Sanger sequencing | neutral | 0.0139 | De Rubeis S, 2014 | ||
2 | 71649966 | A | G | Sanger sequencing | neutral | 0.0081 | De Rubeis S, 2014 | ||
2 | 71577361 | AT | A | 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! |