Hs07019115_cn

• Gene Symbol: KMT5A
• Assay Reference Genome Location: Chr.12:123392788 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 387893
• Gene Name: lysine methyltransferase 5A
• Gene Aliases: PR-Set7, SET07, SET8, SETD8
• Location: Chr.12:123383778-123409357 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KMT5A	NM_001324504.1			NP_001311433.1
	NM_001324505.1			NP_001311434.1
	NM_001324506.1			NP_001311435.1
	NM_020382.4			NP_065115.3
	NR_136910.1
	XM_006719394.3			XP_006719457.1
	XM_011538333.2			XP_011536635.1
	AK292645.1
	AY102937.1			AAM47033.1
	BC050346.1			AAH50346.1
	HQ259683.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2746505	Chr.12:123389563 - 123395053 on Build GRCh38	Deletion	KMT5A
esv2417445	Chr.12:123390630 - 123395201 on Build GRCh38	Deletion	KMT5A
dgv44e19	Chr.12:123389476 - 123395147 on Build GRCh38	Loss	KMT5A

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
mitotic nuclear division
peptidyl-lysine monomethylation
histone H4-K20 methylation
regulation of DNA damage response, signal transduction by p53 class mediator
negative regulation of transcription, DNA-templated
cell division
regulation of signal transduction by p53 class mediator

Function(s)

p53 binding
transcription corepressor activity
protein binding
lysine N-methyltransferase activity
protein-lysine N-methyltransferase activity
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H4-K20 specific)