Hs01316042_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30958883 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 Exon 4 - Intron 4

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

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)