HEMK1 HemK methyltransferase family member 1

Information
Symbol
HEMK1
Type
protein-coding
Description
HemK methyltransferase family member 1
Entrez Gene ID
51409
Genome
hg19
Position
chr3:50,606,583-50,633,599
Genome
hg38
Position
chr3:50,569,152-50,596,168
MIM
618609 OMIM
HGNC
HGNC:24923 HGNC
Ensembl
ENSG00000114735 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
48
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
[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 HEMK
SYNONYM MPRMC
SYNONYM MTQ1
MIM 618609 OMIM
HGNC HGNC:24923 HGNC
Ensembl ENSG00000114735 Ensembl
AllianceGenome HGNC:24923
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000232854.9 hg38 chr3 50,569,522 50,596,166 26,645
ENST00000455834.5 hg38 chr3 50,569,493 50,580,672 11,180
ENST00000434410.5 hg38 chr3 50,569,152 50,596,168 27,017
ENST00000434410.5 hg19 chr3 50,606,583 50,633,599 27,017
ENST00000455834.5 hg19 chr3 50,606,924 50,618,103 11,180
ENST00000232854.9 hg19 chr3 50,606,953 50,633,597 26,645
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