Hs04123727_cn

• Gene Symbol: TMLHE
• Assay Reference Genome Location: Chr.X:155545981 on build GRCh38
• Cytoband: Xq28

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 Intron 1

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

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	LAGE3 G6PD SMIM9 IRAK1 ATP6AP1 F8A1 CMC4 VBP1 SLC10A3 MPP1 HCFC1 SNORA36A SNORA70 F8 FAM223B CTAG1A MIR1184-3 GDI1 CLIC2 LOC101927830 FLNA MIR3202-2 RAB39B H2AFB2 IKBKG PLXNA3 SPRY3 F8A3 TMLHE-AS1 FAM3A TMEM187 OPN1LW FAM223A MTCP1 MIR6858 MIR664B UBL4A F8A2 TAZ DKC1 TMLHE CTAG2 OPN1MW2 CH17-340M24.3 MECP2 MIR718 DNASE1L1 FUNDC2 H2AFB1 MIR1184-2 CTAG1B TEX28 GAB3 BRCC3 HCFC1-AS1 LOC105373386 LOC107987332 OPN1MW MIR1184-1 FAM50A MIR3202-1 RPL10 OPN1MW3 EMD SNORA56 H2AFB3 TKTL1
nsv519485	Chr.X:155507715 - 155699751 on Build GRCh38	Loss	TMLHE SPRY3
nsv7162	Chr.X:155545842 - 155591711 on Build GRCh38	Deletion	TMLHE
nsv520699	Chr.X:155545002 - 155699751 on Build GRCh38	Gain	TMLHE SPRY3
esv3575074	Chr.X:155534047 - 155546277 on Build GRCh38	Loss	TMLHE
esv3575076	Chr.X:155542667 - 155550103 on Build GRCh38	Loss	TMLHE
esv29972	Chr.X:154781072 - 155699751 on Build GRCh38	Gain	MIR1184-2 MIR1184-3 SMIM9 F8A2 BRCC3 CLIC2 LOC101927830 RAB39B H2AFB2 SPRY3 F8A1 CMC4 F8A3 VBP1 MPP1 TMLHE TMLHE-AS1 MIR1184-1 MTCP1 F8 FUNDC2 H2AFB1 H2AFB3
esv2670601	Chr.X:155532618 - 155548599 on Build GRCh38	Deletion	TMLHE

More Information

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

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Process(es)

carnitine biosynthetic process
oxidation-reduction process

Function(s)

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