Hs03930039_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30958536 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 3

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

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)