Hs06374410_cn

• Gene Symbol: SETDB2
• Assay Reference Genome Location: Chr.13:49470484 on build GRCh38
• Cytoband: 13q14.2

Target Gene Details

• Entrez Gene ID: 83852
• Gene Name: SET domain bifurcated 2
• Gene Aliases: C13orf4, CLLD8, CLLL8, KMT1F
• Location: Chr.13:49444293-49495003 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETDB2	NM_001160308.2			NP_001153780.1
	NM_001320699.1			NP_001307628.1
	NM_031915.2			NP_114121.2
	AF334407.1			AAK38373.1
	AK307593.1
	AK308220.1
	AK308354.1
	BC047434.2			AAH47434.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv561613	Chr.13:49439486 - 49512130 on Build GRCh38	Loss	SETDB2 PHF11 SETDB2-PHF11 CAB39L
nsv523648	Chr.13:49431308 - 49512130 on Build GRCh38	Gain	SETDB2 PHF11 SETDB2-PHF11 CAB39L
dgv3139n54	Chr.13:49468847 - 49512130 on Build GRCh38	Loss	SETDB2 PHF11 SETDB2-PHF11

More Information

Additional Information:

For this assay, SNP(s) [rs146477545] 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)

heart looping
chromosome segregation
mitotic nuclear division
negative regulation of transcription, DNA-templated
cell division
histone H3-K9 methylation
left/right axis specification

Function(s)

DNA binding
protein binding
zinc ion binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K9 specific)