Variant Details for PKD1P1
Basic Information Top
| Gene Symbol: | PKD1P1 ( FLJ00322,FLJ42525,FLJ44848,FLJ56775,FLJ56871,FLJ59085,HG1,KIAA0220,MGC47688 ) |
|---|---|
| Gene Full Name: | polycystic kidney disease 1 (autosomal dominant) pseudogene 1 |
| Band: | 16p13.11 |
| Quick Links | Entrez ID:339044; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000183889; HGNC ID: 30065 |
| 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 | 7 | 0 | 0 | 0 | 0 | 2 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000196 | 16 | 16p13.1 | 14982499 | 16482499 | 1500000 | gain | external link | Ullmann, 2007 |
| AutCNV0000432 | 16 | 16p12.3-13.11 | 16123666 | 16822871 | 699205 | loss | external link | Gregory, 2009 |
| AutCNV0000431 | 16 | 16p12.3-13.11 | 16123666 | 16822871 | 699205 | loss | external link | Gregory, 2009 |
| AutCNV0000430 | 16 | 16p12.3-13.11 | 15985759 | 16822871 | 837112 | loss | external link | Gregory, 2009 |
| AutCNV0002901 | 16 | 16p12.3-13.11 | 16317637 | 16819277 | 501640 | gain | external link | Pinto, 2010 |
| AutCNV0001513 | 16 | 16p12.3 | 18245665 | 18792147 | 546482 | gain | external link | Pinto, 2010 |
| AutCNV0004331 | 16 | 16p13.11 | 15445228 | 16463250 | 1018022 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000007 | 16p12.3 | 16 | D16S490 | 1.8 | - | - | McCauley, 2005 |