EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit

Information
Symbol
EZH2
Type
protein-coding
Description
enhancer of zeste 2 polycomb repressive complex 2 subunit
Entrez Gene ID
2146
Genome
hg19
Position
chr7:148,504,475-148,581,383
Genome
hg38
Position
chr7:148,807,383-148,884,291
MIM
601573 OMIM
HGNC
HGNC:3527 HGNC
Ensembl
ENSG00000106462 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 26
Likely pathogenic 0 70
Benign 1 130
Likely benign 2 522
Conflicting classifications of pathogenicity 0 20
not provided 68 12
Uncertain significance 9 350
Ranking
ClinVar
0
0
112
928
26
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 ENX-1
SYNONYM ENX1
SYNONYM EZH2b
SYNONYM KMT6
SYNONYM KMT6A
SYNONYM WVS
SYNONYM WVS2
MIM 601573 OMIM
HGNC HGNC:3527 HGNC
Ensembl ENSG00000106462 Ensembl
AllianceGenome HGNC:3527
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320356.7 hg38 chr7 148,807,383 148,884,291 76,909
ENST00000460911.5 hg38 chr7 148,807,385 148,884,245 76,861
ENST00000350995.6 hg38 chr7 148,807,385 148,884,248 76,864
ENST00000478654.5 hg38 chr7 148,807,384 148,884,159 76,776
ENST00000483967.5 hg38 chr7 148,807,525 148,884,287 76,763
ENST00000476773.5 hg38 chr7 148,807,482 148,883,509 76,028
ENST00000320356.7 hg19 chr7 148,504,475 148,581,383 76,909
ENST00000478654.5 hg19 chr7 148,504,476 148,581,251 76,776
ENST00000460911.5 hg19 chr7 148,504,477 148,581,337 76,861
ENST00000350995.6 hg19 chr7 148,504,477 148,581,340 76,864
ENST00000476773.5 hg19 chr7 148,504,574 148,580,601 76,028
ENST00000483967.5 hg19 chr7 148,504,617 148,581,379 76,763
KeyValue
strand-
start148,504,463
VogelsteinOG
Gene SymbolEZH2
Entrez GeneId2,146
Chr Band7q35-q36
end148,581,440
chrchr7
Nameenhancer of zeste homolog 2
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