Variant Details for ZNF721
Basic Information Top
Gene Symbol: | ZNF721 ( FLJ11452,KIAA1982 ) |
---|---|
Gene Full Name: | zinc finger protein 721 |
Band: | 4p16.3 |
Quick Links | Entrez ID:170960; OMIM: NA; Uniprot ID:D9N162_HUMAN; ENSEMBL ID: ENSG00000246238; HGNC ID: 29425 |
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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000019 | 4 | 4p15.32-16.3 | 408952 | 17368531 | 16959579 | loss | external link | Szatmari, 2007 |
AutCNV0001026 | 4 | 4p16.3 | 324435 | 611204 | 286769 | gain | external link | Pinto, 2010 |
AutCNV0004234 | 4 | 4p16.2-p16.3 | 45410 | 3541587 | 3496177 | gain | external link | Sanders, 2011 |
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 |
---|---|---|---|---|---|---|---|---|---|
4 | 476741 | C | A | Sanger | Michaelson JJ, 2012 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000019 | 4p16.3 | 4 | D4S2936 | 1.52 | - | - | Bailey, 1998 |