NSUN5 NOP2/Sun RNA methyltransferase 5

Information
Symbol
NSUN5
Type
protein-coding
Description
NOP2/Sun RNA methyltransferase 5
Entrez Gene ID
55695
Genome
hg19
Position
chr7:72,717,232-72,722,813
Genome
hg38
Position
chr7:73,303,235-73,308,816
MIM
615732 OMIM
HGNC
HGNC:16385 HGNC
Ensembl
ENSG00000130305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
not provided 1 0
Uncertain significance 0 80
Ranking
ClinVar
0
0
0
88
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
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 NOL1
SYNONYM NOL1R
SYNONYM NSUN5A
SYNONYM WBSCR20
SYNONYM WBSCR20A
SYNONYM p120
SYNONYM p120(NOL1)
MIM 615732 OMIM
HGNC HGNC:16385 HGNC
Ensembl ENSG00000130305 Ensembl
AllianceGenome HGNC:16385
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000428206.5 hg38 chr7 73,302,517 73,308,804 6,288
ENST00000310326.8 hg38 chr7 73,303,235 73,308,816 5,582
ENST00000438747.7 hg38 chr7 73,302,516 73,308,826 6,311
ENST00000252594.10 hg38 chr7 73,303,230 73,308,806 5,577
ENST00000438747.7 hg19 chr7 72,716,513 72,722,823 6,311
ENST00000428206.5 hg19 chr7 72,716,514 72,722,801 6,288
ENST00000252594.10 hg19 chr7 72,717,227 72,722,803 5,577
ENST00000310326.8 hg19 chr7 72,717,232 72,722,813 5,582
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