Variant Details for PPME1
Basic Information Top
| Gene Symbol: | PPME1 ( FLJ22226,PME-1 ) |
|---|---|
| Gene Full Name: | protein phosphatase methylesterase 1 |
| Band: | 11q13.4 |
| Quick Links | Entrez ID:51400; OMIM: 611117; Uniprot ID:PPME1_HUMAN; ENSEMBL ID: ENSG00000214517; HGNC ID: 30178 |
| 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 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000693 | 11 | 11q13.4 | 71022352 | 75222352 | 4200000 | gain | external link | Berkel, 2010 |
| AutCNV0005839 | 11 | 11q13.4 | 73617083 | 73947977 | 330894 | gain | external link | Egger G, 2014 |
| AutCNV0004881 | X | Xp11.2 | 53904538 | 54159312 | 254774 | loss | external link | De Wolf V, 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! | |||||||