NUP62 nucleoporin 62

Information
Symbol
NUP62
Type
protein-coding
Description
nucleoporin 62
Entrez Gene ID
23636
Genome
hg19
Position
chr19:50,411,363-50,432,761
Genome
hg38
Position
chr19:49,908,106-49,929,504
MIM
605815 OMIM
HGNC
HGNC:8066 HGNC
Ensembl
ENSG00000213024 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 32
Likely benign 0 98
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 194
Ranking
ClinVar
0
0
64
256
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 IBSN
SYNONYM SNDI
SYNONYM p62
MIM 605815 OMIM
HGNC HGNC:8066 HGNC
Ensembl ENSG00000213024 Ensembl
AllianceGenome HGNC:8066
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000700478.1 hg38 chr19 49,907,713 49,929,475 21,763
ENST00000700473.1 hg38 chr19 49,906,851 49,929,518 22,668
ENST00000700477.1 hg38 chr19 49,907,706 49,929,529 21,824
ENST00000700476.1 hg38 chr19 49,907,706 49,929,504 21,799
ENST00000700475.1 hg38 chr19 49,907,706 49,929,475 21,770
ENST00000700474.1 hg38 chr19 49,906,933 49,929,531 22,599
ENST00000596217.1 hg38 chr19 49,908,106 49,929,504 21,399
ENST00000599788.2 hg38 chr19 49,907,706 49,929,504 21,799
ENST00000600583.6 hg38 chr19 49,907,706 49,929,504 21,799
ENST00000596437.6 hg38 chr19 49,906,953 49,929,531 22,579
ENST00000597029.6 hg38 chr19 49,907,638 49,929,496 21,859
ENST00000597723.5 hg38 chr19 49,908,105 49,929,475 21,371
ENST00000352066.8 hg38 chr19 49,906,825 49,929,504 22,680
ENST00000598301.2 hg38 chr19 49,907,706 49,929,500 21,795
ENST00000600935.2 hg38 chr19 49,906,866 49,929,531 22,666
ENST00000599560.6 hg38 chr19 49,907,709 49,929,764 22,056
ENST00000422090.2 hg38 chr19 49,906,825 49,929,744 22,920
ENST00000352066.8 hg19 chr19 50,410,082 50,432,761 22,680
ENST00000422090.2 hg19 chr19 50,410,082 50,433,001 22,920
ENST00000596217.1 hg19 chr19 50,411,363 50,432,761 21,399
ENST00000597723.5 hg19 chr19 50,411,362 50,432,732 21,371
ENST00000599560.6 hg19 chr19 50,410,966 50,433,021 22,056
ENST00000598301.2 hg19 chr19 50,410,963 50,432,757 21,795
ENST00000599788.2 hg19 chr19 50,410,963 50,432,761 21,799
ENST00000596437.6 hg19 chr19 50,410,210 50,432,788 22,579
ENST00000597029.6 hg19 chr19 50,410,895 50,432,753 21,859
ENST00000700476.1 hg19 chr19 50,410,963 50,432,761 21,799
ENST00000600583.6 hg19 chr19 50,410,963 50,432,761 21,799
ENST00000600935.2 hg19 chr19 50,410,123 50,432,788 22,666
ENST00000700473.1 hg19 chr19 50,410,108 50,432,775 22,668
ENST00000700474.1 hg19 chr19 50,410,190 50,432,788 22,599
ENST00000700475.1 hg19 chr19 50,410,963 50,432,732 21,770
ENST00000700477.1 hg19 chr19 50,410,963 50,432,786 21,824
ENST00000700478.1 hg19 chr19 50,410,970 50,432,732 21,763
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