NUP107 nucleoporin 107

Information
Symbol
NUP107
Type
protein-coding
Description
nucleoporin 107
Entrez Gene ID
57122
Genome
hg19
Position
chr12:69,080,758-69,139,589
Genome
hg38
Position
chr12:68,686,978-68,745,809
MIM
607617 OMIM
HGNC
HGNC:29914 HGNC
Ensembl
ENSG00000111581 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 18
Likely pathogenic 2 24
Benign 0 140
Likely benign 0 198
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 180
Ranking
ClinVar
0
0
62
462
20
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 NPHS11
SYNONYM NUP84
SYNONYM ODG6
SYNONYM ODG6; GAMOS7
MIM 607617 OMIM
HGNC HGNC:29914 HGNC
Ensembl ENSG00000111581 Ensembl
AllianceGenome HGNC:29914
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000229179.9 hg38 chr12 68,686,978 68,745,809 58,832
ENST00000378905.6 hg38 chr12 68,686,951 68,742,692 55,742
ENST00000539906.5 hg38 chr12 68,687,455 68,742,531 55,077
ENST00000378905.6 hg19 chr12 69,080,731 69,136,472 55,742
ENST00000229179.9 hg19 chr12 69,080,758 69,139,589 58,832
ENST00000539906.5 hg19 chr12 69,081,235 69,136,311 55,077
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