Hs04770064_cn

• Gene Symbol: SETMAR
• Assay Reference Genome Location: Chr.3:4308768 on build GRCh38
• Cytoband: 3p26.1

Target Gene Details

• Entrez Gene ID: 6419
• Gene Name: SET domain and mariner transposase fusion gene
• Gene Aliases: METNASE, Mar1
• Location: Chr.3:4303304-4320649 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SETMAR	NM_001243723.1			NP_001230652.1
	NM_001276325.1			NP_001263254.1
	NM_001320676.1			NP_001307605.1
	NM_001320677.1			NP_001307606.1
	NM_001320678.1			NP_001307607.1
	NM_006515.3			NP_006506.3
	XM_006713292.3			XP_006713355.1
	XM_006713294.3			XP_006713357.1
	XM_017007032.1			XP_016862521.1
	AF054989.1			AAC09350.1
	AK222734.1			BAD96454.1
	AK297865.1
	AK302296.1
	AK307537.1
	AK311418.1
	AY952295.1			AAY29570.1
	BC008931.2			AAH08931.2
	BC011635.2			AAH11635.1
	BG479260.1
	DC357038.1
	U80776.1			AAC52012.1

Target Gene Details

• Entrez Gene ID: 285362
• Gene Name: sulfatase modifying factor 1
• Gene Aliases: AAPA3037, FGE, UNQ3037
• Location: Chr.3:4034714-4467282 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SUMF1	XM_011533624.2			XP_011531926.1
	XM_011533625.2			XP_011531927.1
	XM_017006252.1			XP_016861741.1
	XM_017006253.1			XP_016861742.1
	XM_017006254.1			XP_016861743.1
	AY358092.1			AAQ88459.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3575535	Chr.3:4292219 - 4362841 on Build GRCh38	Gain	SETMAR SUMF1
dgv272n21	Chr.3:4080585 - 4319799 on Build GRCh38	Loss	SETMAR SUMF1
nsv1006124	Chr.3:4235682 - 4310067 on Build GRCh38	Loss	SETMAR SUMF1
esv3893640	Chr.3:4196512 - 4421324 on Build GRCh38	Loss	SETMAR SUMF1
esv2759126	Chr.3:4096685 - 4378673 on Build GRCh38	Loss	SETMAR SUMF1
nsv469899	Chr.3:4281224 - 4315301 on Build GRCh38	Loss	SETMAR SUMF1
nsv589451	Chr.3:4231805 - 4473507 on Build GRCh38	Loss	SETMAR SUMF1
nsv997886	Chr.3:4294748 - 4373592 on Build GRCh38	Gain	SETMAR SUMF1
nsv1003234	Chr.3:4298679 - 4344910 on Build GRCh38	Gain	SETMAR SUMF1

More Information

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

Panther Classification:

Molecular Function -

viral or transposable element protein, histone modifying enzyme

Gene Ontology Categories:

Process(es)

DNA double-strand break processing
DNA catabolic process, endonucleolytic
double-strand break repair via nonhomologous end joining
cell proliferation
histone H3-K36 methylation
DNA integration
replication fork processing
mitotic DNA integrity checkpoint
histone H3-K4 methylation
negative regulation of cell cycle arrest
nucleic acid phosphodiester bond hydrolysis
histone H3-K36 dimethylation
positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity
positive regulation of double-strand break repair via nonhomologous end joining
negative regulation of chromosome organization
glycosphingolipid metabolic process
post-translational protein modification
oxidation-reduction process

Function(s)

single-stranded DNA endodeoxyribonuclease activity
double-stranded DNA binding
single-stranded DNA binding
endonuclease activity
protein binding
zinc ion binding
histone methyltransferase activity (H3-K4 specific)
protein homodimerization activity
structure-specific DNA binding
DNA topoisomerase binding
histone methyltransferase activity (H3-K36 specific)
oxidoreductase activity
metal ion binding