Hs01286824_cn

• Gene Symbol: EZH1
• Assay Reference Genome Location: Chr.17:42701554 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 2145
• Gene Name: enhancer of zeste 1 polycomb repressive complex 2 subunit
• Gene Aliases: KMT6B
• Location: Chr.17:42700275-42745096 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EZH1	NM_001321079.1	20	3319	NP_001308008.1
	NM_001321081.1	21	3383	NP_001308010.1
	NM_001321082.1	20	3290	NP_001308011.1
	NM_001991.4	21	3410	NP_001982.2
	XM_005257145.2	19	3165	XP_005257202.1
	XM_011524517.2	20	3258	XP_011522819.1
	XM_017024350.1	20	3237	XP_016879839.1
	XM_017024351.1	19	3144	XP_016879840.1
	XM_017024352.1	18	2995	XP_016879841.1
	AB002386.1	20	3322
	AL833159.1	21	3330
	BC015882.1	21	3344	AAH15882.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833450	Chr.17:42660985 - 42825144 on Build GRCh38	Loss	COA3 TUBG2 CNTD1 WNK4 MIR6781 RAMP2 CNTNAP1 VPS25 CCR10 PLEKHH3 RAMP2-AS1 BECN1 MIR6780A EZH1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
anatomical structure morphogenesis
hippocampus development
positive regulation of transcription from RNA polymerase II promoter
histone H3-K27 methylation

Function(s)

chromatin binding
histone-lysine N-methyltransferase activity