PRPF8 pre-mRNA processing factor 8

Information
Symbol
PRPF8
Type
protein-coding
Description
pre-mRNA processing factor 8
Entrez Gene ID
10594
Genome
hg19
Position
chr17:1,553,925-1,588,131
Genome
hg38
Position
chr17:1,650,631-1,684,837
MIM
607300 OMIM
HGNC
HGNC:17340 HGNC
Ensembl
ENSG00000174231 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 38
Likely pathogenic 0 68
Benign 26 166
Likely benign 0 1,364
Conflicting classifications of pathogenicity 0 110
not provided 16 0
Uncertain significance 4 954
Ranking
ClinVar
0
0
228
2,290
14
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 HPRP8
SYNONYM PRP8
SYNONYM PRPC8
SYNONYM RP13
SYNONYM SNRNP220
MIM 607300 OMIM
HGNC HGNC:17340 HGNC
Ensembl ENSG00000174231 Ensembl
AllianceGenome HGNC:17340
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000572621.5 hg38 chr17 1,650,631 1,684,837 34,207
ENST00000304992.11 hg38 chr17 1,650,629 1,684,867 34,239
ENST00000573725.2 hg38 chr17 1,650,652 1,684,863 34,212
ENST00000703540.1 hg38 chr17 1,650,661 1,684,852 34,192
ENST00000703541.1 hg38 chr17 1,650,802 1,684,837 34,036
ENST00000304992.11 hg19 chr17 1,553,923 1,588,161 34,239
ENST00000572621.5 hg19 chr17 1,553,925 1,588,131 34,207
ENST00000573725.2 hg19 chr17 1,553,946 1,588,157 34,212
ENST00000703540.1 hg19 chr17 1,553,955 1,588,146 34,192
ENST00000703541.1 hg19 chr17 1,554,096 1,588,131 34,036
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