PRNP
Name
prion protein
Synonyms
KURU, ASCR, PrP, PrP33-35C, GSS, PRIP, AltPrP, PrP27-30, PRP, CJD, p27-30, PrPc, CD230 [provided by Ensembl, GRCh37]
Location
chr20:4,666,882-4,682,236 (forward strand)
Summary
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Biotype
Protein coding
Ensembl gene ID
NCBI gene ID
Search for articles
Differential expression
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
DICE QTLs
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
| SNP ID | Cell type | Position (chr20) | Padj(eQTL) | Effect size | GWAS | pieQTL |
|---|
| SNP | Cluster | Position (chr20) | Padj(eQTL) | Effect size |
|---|
| SNP | Disease or trait | Padj(gwas) |
|---|
| SNP | Distance(bp) from TSS | Cell type | Padj(eQTL) |
|---|
| Reference | Title of article | Pubmed ID |
|---|
UCSC Genome Browser
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
