Hs01161459_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30964115 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: Overlaps Intron 7 - Exon 8

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	FBXL19-AS1 STX4 ZNF668 VKORC1 ZNF646 FBXL19 ORAI3 CTF1 FUS BCKDK MIR762HG PRSS53 PRSS8 MIR762 SETD1A KAT8 HSD3B7 LOC101928762 STX1B PRSS36 BCL7C
dgv35n68	Chr.16:30833730 - 31036730 on Build GRCh38	Loss	MIR762HG MIR762 FBXL19-AS1 SETD1A STX4 HSD3B7 FBXL19 STX1B ORAI3 CTF1 BCL7C MIR4519
esv3582130	Chr.16:30962948 - 30977935 on Build GRCh38	Loss	SETD1A
nsv833193	Chr.16:30949475 - 31122283 on Build GRCh38	Gain+Loss	BCKDK PRSS53 SETD1A STX4 KAT8 ZNF668 HSD3B7 VKORC1 ZNF646 LOC101928762 STX1B ORAI3
nsv953802	Chr.16:30876680 - 30999279 on Build GRCh38	Deletion	MIR762HG MIR762 FBXL19-AS1 SETD1A HSD3B7 FBXL19 STX1B ORAI3 CTF1 BCL7C

More Information

• Set Membership: Intragenic, 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)