Variant Details for PDCD1
Basic Information Top
| Gene Symbol: | PDCD1 ( CD279,PD1,SLEB2,hPD-1,hPD-l ) |
|---|---|
| Gene Full Name: | programmed cell death 1 |
| Band: | 2q37.3 |
| Quick Links | Entrez ID:5133; OMIM: 600244; Uniprot ID:PDCD1_HUMAN; ENSEMBL ID: ENSG00000188389; HGNC ID: 8760 |
| 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 | 4 | 2 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000003 | 2 | 2q37.3 | 238435066 | 242985351 | 4550285 | loss | external link | Sebat, 2007 |
| AutCNV0000002 | 2 | 2q37.2-q37.3 | 236632455 | 242985351 | 6352896 | loss | external link | Sebat, 2007 |
| AutCNV0004213 | 2 | 2q37.2-q37.3 | 236749716 | 243052430 | 6302714 | loss | external link | Sanders, 2011 |
| AutCNV0004214 | 2 | 2q37.3 | 238552327 | 243052430 | 4500103 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 242795103 | * | complex, -G & K at 242795103 | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 2 | 242795110 | G | T | PCR or Sanger sequencing | neutral | 0.0014 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||