PEMT phosphatidylethanolamine N-methyltransferase

Information
Symbol
PEMT
Type
protein-coding
Description
phosphatidylethanolamine N-methyltransferase
Entrez Gene ID
10400
Genome
hg19
Position
chr17:17,408,877-17,495,022
Genome
hg38
Position
chr17:17,505,563-17,591,708
MIM
602391 OMIM
HGNC
HGNC:8830 HGNC
Ensembl
ENSG00000133027 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
not provided 2 0
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
20
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 PEAMT
SYNONYM PEMPT
SYNONYM PEMT2
SYNONYM PLMT
SYNONYM PNMT
MIM 602391 OMIM
HGNC HGNC:8830 HGNC
Ensembl ENSG00000133027 Ensembl
AllianceGenome HGNC:8830
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000255389.10 hg38 chr17 17,505,563 17,591,708 86,146
ENST00000395782.5 hg38 chr17 17,505,563 17,577,465 71,903
ENST00000395783.5 hg38 chr17 17,505,563 17,582,431 76,869
ENST00000395781.6 hg38 chr17 17,505,565 17,591,708 86,144
ENST00000435340.6 hg38 chr17 17,505,563 17,591,679 86,117
ENST00000395782.5 hg19 chr17 17,408,877 17,480,779 71,903
ENST00000395783.5 hg19 chr17 17,408,877 17,485,745 76,869
ENST00000435340.6 hg19 chr17 17,408,877 17,494,993 86,117
ENST00000255389.10 hg19 chr17 17,408,877 17,495,022 86,146
ENST00000395781.6 hg19 chr17 17,408,879 17,495,022 86,144
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