PRPF31 pre-mRNA processing factor 31

Information
Symbol
PRPF31
Type
protein-coding
Description
pre-mRNA processing factor 31
Entrez Gene ID
26121
Genome
hg19
Position
chr19:54,619,134-54,635,144
Genome
hg38
Position
chr19:54,115,754-54,131,713
MIM
606419 OMIM
HGNC
HGNC:15446 HGNC
Ensembl
ENSG00000105618 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 17 282
Likely pathogenic 0 168
Benign 10 72
Likely benign 0 322
Conflicting classifications of pathogenicity 0 74
Uncertain significance 0 412
Ranking
ClinVar
0
0
201
933
68
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM NY-BR-99
SYNONYM PRP31
SYNONYM RP11
SYNONYM SNRNP61
MIM 606419 OMIM
HGNC HGNC:15446 HGNC
Ensembl ENSG00000105618 Ensembl
AllianceGenome HGNC:15446
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000419967.5 hg38 chr19 54,115,410 54,131,719 16,310
ENST00000391755.1 hg38 chr19 54,118,271 54,131,709 13,439
ENST00000321030.9 hg38 chr19 54,115,754 54,131,713 15,960
ENST00000419967.5 hg19 chr19 54,618,790 54,635,150 16,361
ENST00000321030.9 hg19 chr19 54,619,134 54,635,144 16,011
ENST00000391755.1 hg19 chr19 54,621,651 54,635,140 13,490
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