Hs06700260_cn

• Gene Symbol: SETD2
• Assay Reference Genome Location: Chr.3:47044656 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 29072
• Gene Name: SET domain containing 2
• Gene Aliases: HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, SET2, p231HBP
• Location: Chr.3:47016408-47164109 on Build GRCh38
• Assay Gene Location: Within Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETD2	NM_014159.6			NP_054878.5
	XM_011533631.2			XP_011531933.1
	XM_011533632.2			XP_011531934.1
	XM_011533633.2			XP_011531935.1
	XM_011533634.1			XP_011531936.1
	XM_017006270.1			XP_016861759.1
	AB051519.2			BAB21823.2
	AJ238403.1			CAC28349.1
	AK026837.1
	AK095494.1
	AL713692.1			CAD28492.1
	AL831959.1			CAD38601.2
	AY576987.1			AAT77612.1
	AY576988.1			AAT77613.1
	BC090954.1			AAH90954.1
	BC117162.1
	BC117164.1
	BX649110.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1007714	Chr.3:47042897 - 47290080 on Build GRCh38	Gain	SNORD13P3 KIF9 KLHL18 SETD2 KIF9-AS1
nsv997261	Chr.3:47013276 - 47092190 on Build GRCh38	Gain	NRADDP SETD2
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	PRSS46 CCDC12 PRSS45 ELP6 CSPG5 PRSS42 SCAP MYL3 PRSS50 PTPN23 TMIE KIF9-AS1 PTH1R PRSS43 ALS2CL SMARCC1 SNORD13P3 KIF9 NRADDP KLHL18 NBEAL2 SETD2
esv3596073	Chr.3:46936296 - 47131646 on Build GRCh38	Loss	CCDC12 NRADDP NBEAL2 SETD2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein, histone modifying enzyme

Gene Ontology Categories:

Process(es)

angiogenesis
morphogenesis of a branching structure
neural tube closure
mismatch repair
regulation of transcription, DNA-templated
transcription elongation from RNA polymerase II promoter
regulation of mRNA export from nucleus
forebrain development
nucleosome organization
cell migration involved in vasculogenesis
mesoderm morphogenesis
embryonic cranial skeleton morphogenesis
stem cell development
pericardium development
embryonic placenta morphogenesis
coronary vasculature morphogenesis
histone H3-K36 trimethylation
histone H3-K36 dimethylation

Function(s)

protein binding
histone-lysine N-methyltransferase activity
histone methyltransferase activity (H3-K36 specific)