EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit

Information
Symbol
EZH1
Type
protein-coding
Description
enhancer of zeste 1 polycomb repressive complex 2 subunit
Entrez Gene ID
2145
Genome
hg19
Position
chr17:40,852,293-40,897,058
Genome
hg38
Position
chr17:42,700,275-42,745,040
MIM
601674 OMIM
HGNC
HGNC:3526 HGNC
Ensembl
ENSG00000108799 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 8
Uncertain significance 0 36
Ranking
ClinVar
0
0
4
40
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 KMT6B
MIM 601674 OMIM
HGNC HGNC:3526 HGNC
Ensembl ENSG00000108799 Ensembl
AllianceGenome HGNC:3526
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592743.5 hg38 chr17 42,702,325 42,745,049 42,725
ENST00000428826.7 hg38 chr17 42,700,275 42,745,040 44,766
ENST00000415827.6 hg38 chr17 42,700,275 42,745,042 44,768
ENST00000585893.5 hg38 chr17 42,702,385 42,745,031 42,647
ENST00000590078.5 hg38 chr17 42,702,385 42,745,037 42,653
ENST00000415827.6 hg19 chr17 40,852,293 40,897,060 44,768
ENST00000428826.7 hg19 chr17 40,852,293 40,897,058 44,766
ENST00000585893.5 hg19 chr17 40,854,403 40,897,049 42,647
ENST00000590078.5 hg19 chr17 40,854,403 40,897,055 42,653
ENST00000592743.5 hg19 chr17 40,854,343 40,897,067 42,725
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