Variant Details for BTN2A1
Basic Information Top
| Gene Symbol: | BTN2A1 ( BK14H9.1,BT2.1,BTF1,DJ3E1.1,FLJ36567 ) |
|---|---|
| Gene Full Name: | butyrophilin, subfamily 2, member A1 |
| Band: | 6p22.2 |
| Quick Links | Entrez ID:11120; OMIM: 613590; Uniprot ID:BT2A1_HUMAN; ENSEMBL ID: ENSG00000112763; HGNC ID: 1136 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001054 | 6 | 6p22.1 | 26430848 | 26465384 | 34536 | loss | external link | Pinto, 2010 |
| AutCNV0004078 | 6 | 6p22.1 | 26427828 | 26465977 | 38149 | gain | external link | Levy, 2011 |
| AutCNV0003569 | 6 | 6p22.1 | 26467182 | 26505362 | 38180 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 26463682 | T | C | neutral | 0.0431 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000150 | 6p22.1 | 6 | MOGc | - | - | 0.012 | Guerini, 2010 |