Hs04453618_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30962469 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 9739
• Gene Name: SET domain containing 1A
• Gene Aliases: KMT2F, Set1, Set1A
• Location: Chr.16:30956618-30984664 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETD1A	NM_014712.2			NP_055527.1
	XM_005255723.1			XP_005255780.1
	XM_006721106.3			XP_006721169.1
	XM_017023909.1			XP_016879398.1
	AB002337.2
	BC035795.2			AAH35795.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv457483	Chr.16:30892358 - 31180161 on Build GRCh38	Loss	HSD3B7 BCKDK FUS FBXL19 PRSS8 BCL7C ORAI3 SETD1A FBXL19-AS1 STX1B PRSS53 ZNF646 CTF1 LOC101928762 PRSS36 ZNF668 VKORC1 MIR762HG STX4 KAT8 MIR762
dgv35n68	Chr.16:30833730 - 31036730 on Build GRCh38	Loss	HSD3B7 CTF1 FBXL19 MIR762HG BCL7C MIR4519 ORAI3 SETD1A STX4 FBXL19-AS1 STX1B MIR762
nsv833193	Chr.16:30949475 - 31122283 on Build GRCh38	Gain+Loss	HSD3B7 PRSS53 ZNF646 BCKDK LOC101928762 ZNF668 VKORC1 ORAI3 SETD1A STX4 KAT8 STX1B
nsv953802	Chr.16:30876680 - 30999279 on Build GRCh38	Deletion	HSD3B7 CTF1 FBXL19 MIR762HG BCL7C ORAI3 SETD1A FBXL19-AS1 STX1B MIR762

More Information

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

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
histone H3-K4 methylation

Function(s)

nucleotide binding
RNA binding
protein binding
beta-catenin binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K4 specific)