NUP50 nucleoporin 50

Information
Symbol
NUP50
Type
protein-coding
Description
nucleoporin 50
Entrez Gene ID
10762
Genome
hg19
Position
chr22:45,559,806-45,583,898
Genome
hg38
Position
chr22:45,163,925-45,188,017
MIM
604646 OMIM
HGNC
HGNC:8065 HGNC
Ensembl
ENSG00000093000 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 1 0
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
48
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 NPAP60
SYNONYM NPAP60L
MIM 604646 OMIM
HGNC HGNC:8065 HGNC
Ensembl ENSG00000093000 Ensembl
AllianceGenome HGNC:8065
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000347635.9 hg38 chr22 45,163,925 45,188,017 24,093
ENST00000396096.6 hg38 chr22 45,164,646 45,184,830 20,185
ENST00000407019.6 hg38 chr22 45,163,986 45,184,830 20,845
ENST00000347635.9 hg19 chr22 45,559,806 45,583,898 24,093
ENST00000407019.6 hg19 chr22 45,559,867 45,580,711 20,845
ENST00000396096.6 hg19 chr22 45,560,527 45,580,711 20,185
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