NUP160 nucleoporin 160

Information
Symbol
NUP160
Type
protein-coding
Description
nucleoporin 160
Entrez Gene ID
23279
Genome
hg19
Position
chr11:47,799,670-47,869,902
Genome
hg38
Position
chr11:47,778,118-47,848,350
MIM
607614 OMIM
HGNC
HGNC:18017 HGNC
Ensembl
ENSG00000030066 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 48
Likely benign 0 156
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 302
Ranking
ClinVar
0
0
54
448
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 :
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 NPHS19
MIM 607614 OMIM
HGNC HGNC:18017 HGNC
Ensembl ENSG00000030066 Ensembl
AllianceGenome HGNC:18017
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528071.5 hg38 chr11 47,792,012 47,848,334 56,323
ENST00000378460.7 hg38 chr11 47,778,118 47,848,350 70,233
ENST00000694866.1 hg38 chr11 47,778,087 47,848,467 70,381
ENST00000694867.1 hg38 chr11 47,839,501 47,848,350 8,850
ENST00000526870.1 hg38 chr11 47,839,501 47,848,555 9,055
ENST00000694866.1 hg19 chr11 47,799,639 47,870,019 70,381
ENST00000378460.7 hg19 chr11 47,799,670 47,869,902 70,233
ENST00000528071.5 hg19 chr11 47,813,564 47,869,886 56,323
ENST00000694867.1 hg19 chr11 47,861,053 47,869,902 8,850
ENST00000526870.1 hg19 chr11 47,861,053 47,870,107 9,055
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