Variant Details for HLA-DRB1
Basic Information Top
| Gene Symbol: | HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 ) |
|---|---|
| Gene Full Name: | major histocompatibility complex, class II, DR beta 1 |
| Band: | 6p21.32 |
| Quick Links | Entrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126; HGNC ID: 4948 |
| 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 | 0 | 0 | 0 | 2 | 0 | 4 |
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 |
| AutCNV0005112 | 3 | 3p14.2 | 59958388 | 61036905 | 1078517 | loss | external link | Kanduri C, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| Torres, 2002 | |||||||||
| Warren, 1992 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||