PSMD8 proteasome 26S subunit, non-ATPase 8

Information
Symbol
PSMD8
Type
protein-coding
Description
proteasome 26S subunit, non-ATPase 8
Entrez Gene ID
5714
Genome
hg19
Position
chr19:38,865,211-38,874,464
Genome
hg38
Position
chr19:38,374,571-38,383,824
MIM
617844 OMIM
HGNC
HGNC:9566 HGNC
Ensembl
ENSG00000099341 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
22
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 HEL-S-91n
SYNONYM HIP6
SYNONYM HYPF
SYNONYM Nin1p
SYNONYM Rpn12
SYNONYM S14
SYNONYM p31
MIM 617844 OMIM
HGNC HGNC:9566 HGNC
Ensembl ENSG00000099341 Ensembl
AllianceGenome HGNC:9566
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000602911.5 hg38 chr19 38,374,759 38,383,824 9,066
ENST00000700294.1 hg38 chr19 38,374,571 38,383,811 9,241
ENST00000700293.1 hg38 chr19 38,374,563 38,383,488 8,926
ENST00000700295.1 hg38 chr19 38,374,691 38,383,850 9,160
ENST00000215071.9 hg38 chr19 38,374,571 38,383,824 9,254
ENST00000592035.5 hg38 chr19 38,375,009 38,382,753 7,745
ENST00000585598.1 hg38 chr19 38,374,758 38,382,847 8,090
ENST00000700293.1 hg19 chr19 38,865,203 38,874,128 8,926
ENST00000700294.1 hg19 chr19 38,865,211 38,874,451 9,241
ENST00000215071.9 hg19 chr19 38,865,211 38,874,464 9,254
ENST00000700295.1 hg19 chr19 38,865,331 38,874,490 9,160
ENST00000585598.1 hg19 chr19 38,865,398 38,873,487 8,090
ENST00000602911.5 hg19 chr19 38,865,399 38,874,464 9,066
ENST00000592035.5 hg19 chr19 38,865,649 38,873,393 7,745
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