Hs00197578_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30963557 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 7 - Intron 7

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

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)