Variant Details for PLD5
Basic Information Top
| Gene Symbol: | PLD5 ( FLJ40773,MGC120565,MGC120566,MGC120567,PLDC ) |
|---|---|
| Gene Full Name: | phospholipase D family, member 5 |
| Band: | 1q43 |
| Quick Links | Entrez ID:200150; OMIM: NA; Uniprot ID:PLD5_HUMAN; ENSEMBL ID: ENSG00000180287; HGNC ID: 26879 |
| 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 | 1 | 1 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001187 | 1 | 1q43 | 242304648 | 243126352 | 821704 | loss | external link | Pinto, 2010 |
| AutCNV0004197 | 1 | 1q43 | 242652356 | 242901577 | 249221 | gain | external link | Sanders, 2011 |
| AutCNV0003798 | 1 | 1q43 | 242643393 | 242910083 | 266690 | gain | external link | Levy, 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 | 242383342 | T | C | PCR and MiSeq | neutral | 0.025 | Iossifov I, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 242383342 | T | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000069 | 1q43 | 1 | D1S2842 | 1.17 | - | - | Buxbaum, 2001 |