Variant Details for UGGT2
Basic Information Top
| Gene Symbol: | UGGT2 ( FLJ10873,FLJ11485,HUGT2,MGC117360,MGC150689,MGC87276,UGCGL2,UGT2 ) |
|---|---|
| Gene Full Name: | UDP-glucose glycoprotein glucosyltransferase 2 |
| Band: | 13q32.1 |
| Quick Links | Entrez ID:55757; OMIM: 605898; Uniprot ID:UGGG2_HUMAN; ENSEMBL ID: ENSG00000102595; HGNC ID: 15664 |
| 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 | 2 | 1 | 2 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003972 | 13 | 13q32.1 | 96666931 | 97662930 | 995999 | loss | external link | Levy, 2011 |
| AutCNV0003696 | 13 | 13q32.1 | 96506664 | 96873444 | 366780 | loss | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 96536926 | C | T | Sanger sequencing | deleterious | 0.9925 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 13 | 96506641 | T | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 13 | 96506641 | T | A | Mosaic | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000024 | 13q32.1 | 13 | D13S193 | 1.52 | - | - | Bailey, 1998 |