Variant Details for UBR2
Basic Information Top
| Gene Symbol: | UBR2 ( C6orf133,DKFZp686C08114,FLJ36357,KIAA0349,MGC71112,RP3-392M17.3,bA49A4.1,dJ242G1.1,dJ392M17.3 ) |
|---|---|
| Gene Full Name: | ubiquitin protein ligase E3 component n-recognin 2 |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:23304; OMIM: 609134; Uniprot ID:UBR2_HUMAN; ENSEMBL ID: ENSG00000024048; HGNC ID: 21289 |
| 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 | 1 | 4 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 42627568 | C | G | Sanger sequencing | deleterious | 0.5125 | De Rubeis S, 2014 | ||
| 6 | 42631075 | G | A | Sanger sequencing | deleterious | 0.5125 | De Rubeis S, 2014 | ||
| 6 | 42657338 | G | T | PCR or Sanger sequencing | deleterious | 0.5125 | Iossifov I, 2014 | ||
| 6 | 42627568 | C | G | c.3417AAC>AAG | p.1139N>K | deleterious | 0.5125 | Fromer M, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 42613210 | 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! | |||||||