PRPF8
This page contains an overview of the genetic variation in the PRPF8 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
PRPF8 gene and transcript details
Gene Name
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Gene Links
Ensembl: ENSG00000174231 -
Locus Reference Genomic:
Genomic Location
Chromosome 17 : 1,554,096 - 1,587,865 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (7005 bases) | Protein (2335 aa) |
|---|---|---|
 |
ENST00000304992 | ENSP00000304350 |
 |
||
 |
NM_006445.3 | |
 |
Q6P2Q9 |
Summary of PRPF8 in Cardiomyopathies
PRPF8 variants in ExAC
Details of the protein-altering PRPF8 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 398 | 0.00481 |
| Truncating | 15 | 0.00012 |
| Missense | 266 | 0.00297 |
| Inframe | 1 | 0.00001 |
| Splice Site | 116 | 0.00171 |