Hs06259763_cn

• Gene Symbol: KMT2A
• Assay Reference Genome Location: Chr.11:118514053 on build GRCh38
• Cytoband: 11q23.3

Target Gene Details

• Entrez Gene ID: 4297
• Gene Name: lysine methyltransferase 2A
• Gene Aliases: ALL-1, CXXC7, HRX, HTRX1, MLL, MLL-AF9, MLL/GAS7, MLL1, MLL1A, TET1-MLL, TRX1, WDSTS
• Location: Chr.11:118436490-118526832 on Build GRCh38
• Assay Gene Location: Within Intron 32

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KMT2A	NM_001197104.1			NP_001184033.1
	NM_005933.3			NP_005924.2
	XM_006718839.3			XP_006718902.2
	XM_011542829.2			XP_011541131.1
	XM_011542830.2			XP_011541132.1
	XM_011542831.2			XP_011541133.1
	XM_011542833.2			XP_011541135.1
	AB209508.1			BAD92745.1
	AK295635.1
	L04284.1			AAA58669.1
	L04731.1

Target Gene Details

• Entrez Gene ID: 101929089
• Gene Name: uncharacterized LOC101929089
• Gene Aliases: -
• Location: Chr.11:118511918-118531094 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101929089	NR_120574.1
	AW449653.1
	AW450539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1044281	Chr.11:118503814 - 118554704 on Build GRCh38	Gain	KMT2A IFT46 LOC101929089 TMEM25 TTC36
esv3627872	Chr.11:118502100 - 118536457 on Build GRCh38	Gain	KMT2A LOC101929089 TMEM25 TTC36
nsv513	Chr.11:118488516 - 118515388 on Build GRCh38	Insertion	KMT2A LOC101929089

More Information

Additional Information:

For this assay, SNP(s) [rs78020509] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

DNA methylation
transcription from RNA polymerase II promoter
protein complex assembly
apoptotic process
negative regulation of cell proliferation
visual learning
post-embryonic development
anterior/posterior pattern specification
peptidyl-lysine monomethylation
positive regulation of transporter activity
circadian regulation of gene expression
embryonic hemopoiesis
exploration behavior
response to potassium ion
histone H4-K16 acetylation
histone H3-K4 dimethylation
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
regulation of short-term neuronal synaptic plasticity
spleen development
homeostasis of number of cells within a tissue
histone H3-K4 methylation
positive regulation of histone H3-K4 methylation
membrane depolarization
definitive hemopoiesis
regulation of histone H3-K14 acetylation
histone H3-K4 trimethylation
regulation of histone H3-K27 acetylation
regulation of histone H3-K9 acetylation
positive regulation of cellular response to drug

Function(s)

core promoter sequence-specific DNA binding
AT DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
zinc ion binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K4 specific)
identical protein binding
protein homodimerization activity
transcription regulatory region DNA binding
unmethylated CpG binding
lysine-acetylated histone binding