Variant Details for PDCD11
Basic Information Top
Gene Symbol: | PDCD11 ( ALG-4,ALG4,KIAA0185,NFBP,RRP5 ) |
---|---|
Gene Full Name: | programmed cell death 11 |
Band: | 10q24.33 |
Quick Links | Entrez ID:22984; OMIM: 612333; Uniprot ID:RRP5_HUMAN; ENSEMBL ID: ENSG00000148843; HGNC ID: 13408 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 2 | 0 | 1 | 0 | 0 | 3 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
10 | 105184868 | G | A | PCR or Sanger sequencing | neutral | 0.0487 | Iossifov I, 2014 | ||
0 | p.Arg964 | Geisheker MR, 2017 |
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 |
---|---|---|---|---|---|---|---|---|---|
10 | 105202091 | G | 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! |