PGPEP1 pyroglutamyl-peptidase I

Information
Symbol
PGPEP1
Type
protein-coding
Description
pyroglutamyl-peptidase I
Entrez Gene ID
54858
Genome
hg19
Position
chr19:18,451,408-18,480,760
Genome
hg38
Position
chr19:18,340,598-18,369,950
MIM
610694 OMIM
HGNC
HGNC:13568 HGNC
Ensembl
ENSG00000130517 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
26
2
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 :
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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 PAP-I
SYNONYM PGI
SYNONYM PGP
SYNONYM PGP-I
SYNONYM PGPI
SYNONYM Pcp
MIM 610694 OMIM
HGNC HGNC:13568 HGNC
Ensembl ENSG00000130517 Ensembl
AllianceGenome HGNC:13568
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252813.5 hg38 chr19 18,340,609 18,364,342 23,734
ENST00000597431.2 hg38 chr19 18,340,639 18,363,688 23,050
ENST00000269919.11 hg38 chr19 18,340,598 18,369,950 29,353
ENST00000595066.5 hg38 chr19 18,340,599 18,357,857 17,259
ENST00000604499.6 hg38 chr19 18,340,598 18,363,678 23,081
ENST00000604499.6 hg19 chr19 18,451,408 18,474,488 23,081
ENST00000269919.11 hg19 chr19 18,451,408 18,480,760 29,353
ENST00000595066.5 hg19 chr19 18,451,409 18,468,667 17,259
ENST00000252813.5 hg19 chr19 18,451,419 18,475,152 23,734
ENST00000597431.2 hg19 chr19 18,451,449 18,474,498 23,050
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