PSMG1 proteasome assembly chaperone 1

Information
Symbol
PSMG1
Type
protein-coding
Description
proteasome assembly chaperone 1
Entrez Gene ID
8624
Genome
hg19
Position
chr21:40,546,695-40,555,377
Genome
hg38
Position
chr21:39,174,769-39,183,451
MIM
605296 OMIM
HGNC
HGNC:3043 HGNC
Ensembl
ENSG00000183527 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
not provided 1 0
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
38
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
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 C21LRP
SYNONYM DSCR2
SYNONYM LRPC21
SYNONYM PAC-1
SYNONYM PAC1
MIM 605296 OMIM
HGNC HGNC:3043 HGNC
Ensembl ENSG00000183527 Ensembl
AllianceGenome HGNC:3043
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000331573.8 hg38 chr21 39,174,769 39,183,451 8,683
ENST00000380900.2 hg38 chr21 39,175,590 39,183,488 7,899
ENST00000331573.8 hg19 chr21 40,546,695 40,555,377 8,683
ENST00000380900.2 hg19 chr21 40,547,516 40,555,414 7,899
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