Variant Details for UBR4
Basic Information Top
| Gene Symbol: | UBR4 ( FLJ41863,KIAA0462,KIAA1307,RBAF600,ZUBR1,p600 ) |
|---|---|
| Gene Full Name: | ubiquitin protein ligase E3 component n-recognin 4 |
| Band: | 1p36.13 |
| Quick Links | Entrez ID:23352; OMIM: 609890; Uniprot ID:UBR4_HUMAN; ENSEMBL ID: ENSG00000127481; HGNC ID: 30313 |
| 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 | 5 | 0 | 1 | 0 | 0 | 6 |
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 | 19446711 | G | A | Sanger sequencing | deleterious | 0.5125 | De Rubeis S, 2014 | ||
| 1 | 19453084 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 1 | 19481533 | C | T | PCR or Sanger sequencing | neutral | 0.4875 | Iossifov I, 2014 | ||
| 1 | 19528292 | T | G | PCR or Sanger sequencing | neutral | 0.4875 | Iossifov I, 2014 | ||
| 1 | 19403354 | G | C | deleterious | 0.5125 | Chen R, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 19439148 | G | T | A3891S | Toma C, 2014 |
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! | |||||||