NUP43 nucleoporin 43

Information
Symbol
NUP43
Type
protein-coding
Description
nucleoporin 43
Entrez Gene ID
348995
Genome
hg19
Position
chr6:150,045,451-150,067,665
Genome
hg38
Position
chr6:149,724,315-149,746,529
MIM
608141 OMIM
HGNC
HGNC:21182 HGNC
Ensembl
ENSG00000120253 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
32
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
[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 bA350J20.1
SYNONYM p42
MIM 608141 OMIM
HGNC HGNC:21182 HGNC
Ensembl ENSG00000120253 Ensembl
AllianceGenome HGNC:21182
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340413.7 hg38 chr6 149,724,315 149,746,529 22,215
ENST00000367404.8 hg38 chr6 149,726,768 149,746,528 19,761
ENST00000340413.7 hg19 chr6 150,045,451 150,067,665 22,215
ENST00000367404.8 hg19 chr6 150,047,904 150,067,664 19,761
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