Variant Details for ATP9B
Basic Information Top
| Gene Symbol: | ATP9B ( ATPASEP,ATPIIB,DKFZp686H2093,FLJ46612,MGC150650,MGC150651,MGC61572,NEO1L ) |
|---|---|
| Gene Full Name: | ATPase, class II, type 9B |
| Band: | 18q23 |
| Quick Links | Entrez ID:374868; OMIM: NA; Uniprot ID:ATP9B_HUMAN; ENSEMBL ID: ENSG00000166377; HGNC ID: 13541 |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000154 | 18 | 18q21.32-23 | 57605621 | 78014628 | 20409007 | loss | external link | Marshall, 2008 |
| AutCNV0002956 | 18 | 18q23 | 76828514 | 77051461 | 222947 | gain | external link | Pinto, 2010 |
| AutCNV0000733 | 18 | 18q22.2-qter | 67669721 | 77864514 | 10194793 | loss | external link | Bremer, 2011 |
| AutCNV0004366 | 18 | 18q21.32-q23 | 57605621 | 78014628 | 20409007 | loss | external link | Sanders, 2011 |
| AutCNV0003747 | 18 | 18q23 | 76848355 | 77112916 | 264561 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 76882805 | A | G | Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||