PRPF31 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PRPF31
Gene name PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
Chromosome 19
Chromosomal band q13.4
Imprinted Unknown
Genomic reference NG_009759.1
Transcript reference NM_015629.3
Exon/intron information NM_015629.3 exon/intron table
Associated with diseases RP-11
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 62
Unique public DNA variants reported 55
Individuals with public variants 36
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated July 24, 2019
Version PRPF31:190724

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015629.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/PRPF31
External URL Orphanet
Mutations of the RNA Processing Factor 31
HGNC 15446
Entrez Gene 26121
PubMed articles PRPF31
OMIM - Gene 606419
OMIM - Diseases RP-11 (retinitis pigmentosa, type 11 (RP-11))
HGMD PRPF31
GeneCards PRPF31
GeneTests PRPF31


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016902 19 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) NM_015629.3 NP_056444.3 62


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