Variant Details for PRUNE2
Basic Information Top
| Gene Symbol: | PRUNE2 ( A214N16.3,BMCC1,BNIPXL,C9orf65,DKFZp762K117,FLJ50060,FLJ54876,FLJ59118,KIAA0367,RP11-58J3.2,bA214N16.3 ) |
|---|---|
| Gene Full Name: | prune homolog 2 (Drosophila) |
| Band: | 9q21.2 |
| Quick Links | Entrez ID:158471; OMIM: 610691; Uniprot ID:PRUN2_HUMAN; ENSEMBL ID: ENSG00000106772; HGNC ID: 25209 |
| 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 | 1 | 3 | 0 | 2 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000731 | 9 | 9q13-q21.31 | 69139257 | 79811537 | 10672280 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 79325023 | G | A | Sanger sequencing | neutral | 0.026 | De Rubeis S, 2014 | ||
| 9 | 79323453 | C | T | PCR or Sanger sequencing | neutral | 0.009 | Iossifov I, 2014 | ||
| 9 | 79325023 | G | A | c.2167CCT>TCT | p.723P>S | neutral | 0.026 | Fromer M, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 79324135 | A | ATGACTGTTGCAG | Y | Nebel RA, 2015 | ||||
| 9 | 79465455 | C | T | Y | Cukier HN, 2014 |
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! | |||||||