Hs04095289_cn

• Gene Symbol: TMLHE
• Assay Reference Genome Location: Chr.X:155559601 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
nsv510869	Chr.X:155552481 - 155600316 on Build GRCh38	Deletion	TMLHE
esv33784	Chr.X:153962665 - 155699588 on Build GRCh38	Gain+Loss	MIR718 CLIC2 SNORA70 F8 BRCC3 PLXNA3 H2AFB2 H2AFB1 LOC101927830 MPP1 TMLHE MIR3202-2 FUNDC2 F8A3 MTCP1 TMEM187 F8A2 IKBKG HCFC1 RPL10 OPN1MW2 UBL4A SLC10A3 MIR1184-3 DKC1 OPN1MW3 TAZ SPRY3 FAM50A CH17-340M24.3 CMC4 LOC107987332 TKTL1 CTAG2 LOC105373386 F8A1 CTAG1B OPN1LW H2AFB3 MIR6858 LAGE3 FLNA ATP6AP1 TEX28 GAB3 FAM223B CTAG1A EMD FAM3A HCFC1-AS1 MIR3202-1 VBP1 SNORA56 SNORA36A TMLHE-AS1 OPN1MW MIR664B G6PD FAM223A DNASE1L1 RAB39B IRAK1 MIR1184-2 GDI1 MECP2 SMIM9 MIR1184-1
nsv519485	Chr.X:155507715 - 155699751 on Build GRCh38	Loss	TMLHE SPRY3
nsv520699	Chr.X:155545002 - 155699751 on Build GRCh38	Gain	TMLHE SPRY3
nsv7162	Chr.X:155545842 - 155591711 on Build GRCh38	Deletion	TMLHE
nsv511652	Chr.X:155551462 - 155586778 on Build GRCh38	Loss	TMLHE
esv3575078	Chr.X:155556315 - 155574027 on Build GRCh38	Loss	TMLHE
esv29972	Chr.X:154781072 - 155699751 on Build GRCh38	Gain	MIR1184-3 CLIC2 F8 SPRY3 BRCC3 RAB39B H2AFB2 H2AFB1 LOC101927830 MIR1184-2 CMC4 MPP1 TMLHE FUNDC2 F8A3 MTCP1 VBP1 F8A1 H2AFB3 F8A2 SMIM9 TMLHE-AS1 MIR1184-1
esv24821	Chr.X:155552998 - 155574053 on Build GRCh38	Gain+Loss	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