Variant Details for HIVEP3
Basic Information Top
| Gene Symbol: | HIVEP3 ( FLJ16752,KBP-1,KBP1,KIAA1555,KRC,SHN3,Schnurri-3,ZAS3,ZNF40C ) |
|---|---|
| Gene Full Name: | human immunodeficiency virus type I enhancer binding protein 3 |
| Band: | 1p34.2 |
| Quick Links | Entrez ID:59269; OMIM: 606649; Uniprot ID:ZEP3_HUMAN; ENSEMBL ID: ENSG00000127124; HGNC ID: 13561 |
| 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 | 0 | 3 | 1 | 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 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 42048715 | C | CG | PCR amplification and Sanger s | Dong S, 2014 | ||||
| 1 | 41976742 | G | A | c.6601C>T | p.Gln2201Ter | Stessman HA, 2017 | |||
| 1 | 41976741 | G | A | Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 42046980 | G | A | mosaic | PASM | Dou Y, 2017 |
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! | |||||||