Variant Details for ATP2A1
Basic Information Top
| Gene Symbol: | ATP2A1 ( ATP2A,SERCA1 ) |
|---|---|
| Gene Full Name: | ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:487; OMIM: 108730; Uniprot ID:AT2A1_HUMAN; ENSEMBL ID: ENSG00000196296; HGNC ID: 811 |
| 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 | 12 | 0 | 0 | 0 | 0 | 0 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000260 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Finelli, 2004 |
| AutCNV0000186 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000152 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000018 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | loss | external link | Weiss, 2008 |
| AutCNV0000017 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Weiss, 2008 |
| AutCNV0000370 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
| AutCNV0000369 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
| AutCNV0001341 | 16 | 16p11.2 | 28822773 | 29043450 | 220677 | gain | external link | Pinto, 2010 |
| AutCNV0004334 | 16 | 16p11.2 | 28837515 | 29043450 | 205935 | loss | external link | Sanders, 2011 |
| AutCNV0005849 | 16 | 16p11.2 | 28660952 | 28951376 | 290424 | loss | external link | Egger G, 2014 |
| AutCNV0004826 | 16 | 16p12.2p11.2 | 21306156 | 29053253 | 7747097 | loss | external link | Okamoto N, 2014 |
| AutCNV0004680 | 16 | 16p11.2 | 28819029 | 29051191 | 232162 | loss | external link | Gazzellone MJ, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||