Hs01471689_cn

• Gene Symbol: SETD1A
• Assay Reference Genome Location: Chr.16:30964879 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETD1A	NM_014712.2	7	1823	NP_055527.1
	XM_005255723.1	7	1307	XP_005255780.1
	XM_006721106.3	7	1228	XP_006721169.1
	XM_017023909.1	7	2460	XP_016879398.1
	AB002337.2	7	1823

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

More Information

• Set Membership: Intragenic, 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)