XPNPEP3 X-prolyl aminopeptidase 3

Information
Symbol
XPNPEP3
Type
protein-coding
Description
X-prolyl aminopeptidase 3
Entrez Gene ID
63929
Genome
hg19
Position
chr22:41,253,152-41,328,819
Genome
hg38
Position
chr22:40,857,148-40,932,815
MIM
613553 OMIM
HGNC
HGNC:28052 HGNC
Ensembl
ENSG00000196236 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 10
Benign 0 82
Likely benign 0 112
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 396
Ranking
ClinVar
0
0
42
552
10
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 :
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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 APP3
SYNONYM ICP55
SYNONYM NPHPL1
MIM 613553 OMIM
HGNC HGNC:28052 HGNC
Ensembl ENSG00000196236 Ensembl
AllianceGenome HGNC:28052
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357137.9 hg38 chr22 40,857,148 40,932,815 75,668
ENST00000614001.1 hg38 chr22 40,857,120 40,860,781 3,662
ENST00000614001.1 hg19 chr22 41,253,124 41,256,785 3,662
ENST00000357137.9 hg19 chr22 41,253,152 41,328,819 75,668
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