Variant Details for PAQR4
Basic Information Top
| Gene Symbol: | PAQR4 ( FLJ30002 ) |
|---|---|
| Gene Full Name: | progestin and adipoQ receptor family member IV |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:124222; OMIM: NA; Uniprot ID:PAQR4_HUMAN; ENSEMBL ID: ENSG00000162073; HGNC ID: 26386 |
| 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 | 0 | 0 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003383 | 16 | 16p13.3 | 2984868 | 3023605 | 38737 | loss | external link | Gai, 2011 |
| AutCNV0004866 | 7 | 7p11.2 | 57260919 | 57882330 | 621411 | gain | external link | Moreira DP, 2014 |
| AutCNV0004873 | 2 | 2q21.1q21.2 | 131853615 | 132750662 | 897047 | loss | external link | Gümü?lü KE, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 3021892 | C | Y | Sanger sequencing | O'Roak BJ, 2012 |
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 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |