Hs02361855_cn

• Gene Symbol: SPRY3
• Assay Reference Genome Location: Chr.X:155612844 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 10251
• Gene Name: sprouty RTK signaling antagonist 3
• Gene Aliases: spry-3
• Location: Chr.X:155612565-155782459 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPRY3	NM_001304990.1			NP_001291919.1
	DA102958.1

Target Gene Details

• Entrez Gene ID: 55217
• Gene Name: trimethyllysine hydroxylase, epsilon
• Gene Aliases: AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
• Location: Chr.X:155489007-155612961 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMLHE	NM_001184797.1	1	118	NP_001171726.1
	NM_018196.3	1	118	NP_060666.1
	XM_017029620.1	1	118	XP_016885109.1
	AF373407.1			AAL01871.1
	AK001589.1	1	93	BAA91775.1
	AK291694.1	1	56
	BC025269.1			AAH25269.1
	DA323339.1	1	113
	DB174485.1	1	118

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33784	Chr.X:153962665 - 155699588 on Build GRCh38	Gain+Loss	H2AFB2 H2AFB3 FAM50A MIR3202-2 SMIM9 G6PD F8A3 FAM223B CTAG1B CTAG2 IRAK1 HCFC1 TKTL1 MIR1184-1 SNORA36A MTCP1 RAB39B HCFC1-AS1 MIR3202-1 GAB3 F8 TMLHE-AS1 FAM223A FUNDC2 BRCC3 MIR1184-3 DNASE1L1 TEX28 EMD IKBKG SLC10A3 GDI1 ATP6AP1 FLNA CTAG1A CH17-340M24.3 DKC1 CMC4 UBL4A MIR664B VBP1 OPN1MW2 MIR1184-2 F8A1 OPN1LW OPN1MW SNORA56 LAGE3 LOC101927830 FAM3A MIR718 SPRY3 TAZ CLIC2 LOC105373386 OPN1MW3 SNORA70 F8A2 MPP1 MECP2 LOC107987332 H2AFB1 PLXNA3 TMEM187 TMLHE MIR6858 RPL10
nsv519485	Chr.X:155507715 - 155699751 on Build GRCh38	Loss	SPRY3 TMLHE
nsv520699	Chr.X:155545002 - 155699751 on Build GRCh38	Gain	SPRY3 TMLHE
esv29972	Chr.X:154781072 - 155699751 on Build GRCh38	Gain	MIR1184-2 F8A1 H2AFB2 H2AFB3 LOC101927830 MIR1184-1 SMIM9 SPRY3 MTCP1 CLIC2 CMC4 RAB39B F8A2 F8A3 F8 TMLHE-AS1 FUNDC2 MPP1 BRCC3 H2AFB1 MIR1184-3 TMLHE VBP1

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein, hydroxylase

Gene Ontology Categories:

Process(es)

multicellular organism development
regulation of signal transduction
axon development
carnitine biosynthetic process
oxidation-reduction process

Function(s)

molecular_function
iron ion binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
L-ascorbic acid binding
trimethyllysine dioxygenase activity