NUP88 nucleoporin 88

Information
Symbol
NUP88
Type
protein-coding
Description
nucleoporin 88
Entrez Gene ID
4927
Genome
hg19
Position
chr17:5,288,104-5,323,174
Genome
hg38
Position
chr17:5,384,784-5,419,854
MIM
602552 OMIM
HGNC
HGNC:8067 HGNC
Ensembl
ENSG00000108559 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 26
Likely benign 0 32
Uncertain significance 0 136
Ranking
ClinVar
0
0
4
188
8
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 FADS4
MIM 602552 OMIM
HGNC HGNC:8067 HGNC
Ensembl ENSG00000108559 Ensembl
AllianceGenome HGNC:8067
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225696.9 hg38 chr17 5,384,784 5,419,854 35,071
ENST00000700544.1 hg38 chr17 5,384,833 5,420,143 35,311
ENST00000700543.1 hg38 chr17 5,384,784 5,419,695 34,912
ENST00000700542.1 hg38 chr17 5,384,784 5,419,662 34,879
ENST00000700546.1 hg38 chr17 5,386,136 5,419,662 33,527
ENST00000700538.1 hg38 chr17 5,383,233 5,419,695 36,463
ENST00000700530.1 hg38 chr17 5,377,091 5,420,164 43,074
ENST00000700535.1 hg38 chr17 5,383,120 5,419,671 36,552
ENST00000573584.6 hg38 chr17 5,384,833 5,419,662 34,830
ENST00000700529.1 hg38 chr17 5,359,668 5,419,695 60,028
ENST00000225696.9 hg19 chr17 5,288,104 5,323,174 35,071
ENST00000573584.6 hg19 chr17 5,288,153 5,322,982 34,830
ENST00000700529.1 hg19 chr17 5,262,963 5,323,015 60,053
ENST00000700530.1 hg19 chr17 5,280,386 5,323,484 43,099
ENST00000700542.1 hg19 chr17 5,288,104 5,322,982 34,879
ENST00000700543.1 hg19 chr17 5,288,104 5,323,015 34,912
ENST00000700535.1 hg19 chr17 5,286,415 5,322,991 36,577
ENST00000700544.1 hg19 chr17 5,288,153 5,323,463 35,311
ENST00000700546.1 hg19 chr17 5,289,456 5,322,982 33,527
ENST00000700538.1 hg19 chr17 5,286,528 5,323,015 36,488
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