Variant Details for ALPPL2
Basic Information Top
| Gene Symbol: | ALPPL2 ( ALPG,ALPPL,GCAP ) |
|---|---|
| Gene Full Name: | alkaline phosphatase, placental-like 2 |
| Band: | 2q37.1 |
| Quick Links | Entrez ID:251; OMIM: 171810; Uniprot ID:PPBN_HUMAN; ENSEMBL ID: ENSG00000163286; HGNC ID: 441 |
| 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 | 6 | 0 | 0 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000476 | 2 | 2q37.1 | 233040892 | 233577991 | 537099 | gain | external link | Gregory, 2009 |
| AutCNV0000475 | 2 | 2q37.1 | 232912712 | 233577991 | 665279 | gain | external link | Gregory, 2009 |
| AutCNV0002413 | 2 | 2q37.1 | 233211861 | 233315308 | 103447 | loss | external link | Pinto, 2010 |
| AutCNV0001197 | 2 | 2q37.1 | 233236078 | 233324491 | 88413 | gain | external link | Pinto, 2010 |
| AutCNV0001196 | 2 | 2q37.1 | 233211861 | 233315308 | 103447 | loss | external link | Pinto, 2010 |
| AutCNV0003509 | 2 | 2q37.1 | 233204890 | 233315308 | 110418 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 233272091 | C | T | Y | Cukier HN, 2014 |
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! | |||||||