Variant Details for PLEKHN1
Basic Information Top
| Gene Symbol: | PLEKHN1 ( DKFZp434H2010,MGC120613,MGC120616,RP11-54O7.7 ) |
|---|---|
| Gene Full Name: | pleckstrin homology domain containing, family N member 1 |
| Band: | 1p36.33 |
| Quick Links | Entrez ID:84069; OMIM: NA; Uniprot ID:PKHN1_HUMAN; ENSEMBL ID: ENSG00000187583; HGNC ID: 25284 |
| 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 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000442 | 1 | 1p36.32-36.33 | 869049 | 3706053 | 2837004 | gain | external link | Gregory, 2009 |
| AutCNV0000441 | 1 | 1p36.32-36.33 | 10001 | 3706053 | 3696052 | loss | external link | Gregory, 2009 |
| AutCNV0000347 | 1 | 1p36.33 | Zwaag, 2009 | |||||
| AutCNV0000346 | 1 | 1p36.33 | Zwaag, 2009 | |||||
| AutCNV0000976 | 1 | 1p36.33 | 838555 | 989461 | 150906 | gain | external link | Pinto, 2010 |
| AutCNV0003119 | 1 | 1p36.32-36.33 | 10002 | 5170712 | 5160710 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 905674 | G | A | c.201G>A | p.Glu67Glu | Not_tested | Takata A, 2018 |
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! | |||||||