Variant Details for HIST1H2BD
Basic Information Top
| Gene Symbol: | HIST1H2BD ( H2B.1B,H2B/b,H2BFB,HIRIP2,MGC90432,dJ221C16.6 ) |
|---|---|
| Gene Full Name: | histone cluster 1, H2bd |
| Band: | 6p22.2 |
| Quick Links | Entrez ID:3017; OMIM: 602799; Uniprot ID:H2B1D_HUMAN; ENSEMBL ID: ENSG00000158373; HGNC ID: 4747 |
| 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 | 0 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000776 | 6 | 6p22.1 | 26132664 | 26251601 | 118937 | loss | external link | Pinto, 2010 |
| AutCNV0001429 | 6 | 6p22.1 | 26149000 | 26308317 | 159317 | loss | external link | Pinto, 2010 |
| AutCNV0004077 | 6 | 6p22.2-p22.1 | 25969236 | 26281755 | 312519 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |