EMG1 EMG1 N1-specific pseudouridine methyltransferase

Information
Symbol
EMG1
Type
protein-coding
Description
EMG1 N1-specific pseudouridine methyltransferase
Entrez Gene ID
10436
Genome
hg19
Position
chr12:7,080,076-7,089,098
Genome
hg38
Position
chr12:6,970,913-6,979,936
MIM
611531 OMIM
HGNC
HGNC:16912 HGNC
Ensembl
ENSG00000126749 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 14
Likely benign 0 17
Uncertain significance 0 28
Ranking
ClinVar
0
0
4
52
3
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 C2F
SYNONYM Grcc2f
SYNONYM NEP1
MIM 611531 OMIM
HGNC HGNC:16912 HGNC
Ensembl ENSG00000126749 Ensembl
AllianceGenome HGNC:16912
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000599672.6 hg38 chr12 6,970,913 6,979,936 9,024
ENST00000599672.6 hg19 chr12 7,080,076 7,089,098 9,023
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