Hs05569969_cn

• Gene Symbol: TRMU
• Assay Reference Genome Location: Chr.22:46354713 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 55687
• Gene Name: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
• Gene Aliases: LCAL3, MTO2, MTU1, TRMT, TRMT1, TRNT1
• Location: Chr.22:46335401-46357340 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRMU	NM_001282782.1			NP_001269711.1
	NM_001282783.1			NP_001269712.1
	NM_001282784.1			NP_001269713.1
	NM_001282785.1			NP_001269714.1
	NM_018006.4			NP_060476.2
	NR_104240.1
	NR_104241.1
	XM_005261678.1			XP_005261735.1
	XM_005261681.1			XP_005261738.1
	XM_011530271.2			XP_011528573.1
	XM_011530272.1			XP_011528574.1
	XM_011530273.1			XP_011528575.1
	XM_011530274.2			XP_011528576.1
	XM_011530275.1			XP_011528577.1
	AB178028.1			BAD66875.1
	AK000212.1
	AK001002.1			BAA91462.1
	AK055295.1
	AK093743.1	1	1197
	AK290712.1
	AY062123.2			AAL38183.1
	BC027991.1
	CR456445.1			CAG30331.1
	DQ309998.1			ABC46690.1
	DQ309999.1			ABC46691.1
	DQ310000.1			ABC46692.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv955177	Chr.22:46350404 - 46389303 on Build GRCh38	Deletion	CELSR1 TRMU
nsv829293	Chr.22:46241054 - 46741639 on Build GRCh38	Gain	GTSE1-AS1 GRAMD4 GTSE1 PPARA CELSR1 TTC38 CDPF1 CERK PKDREJ TRMU
nsv829281	Chr.22:45861485 - 46735858 on Build GRCh38	Gain	LOC730668 GTSE1-AS1 MIR3619 LOC642648 MIR4763 PPARA WNT7B MIRLET7BHG LINC00899 CDPF1 CERK MIRLET7B TRMU PRR34 GRAMD4 GTSE1 MIRLET7A3 LOC107985535 CELSR1 TTC38 PKDREJ PRR34-AS1
nsv834225	Chr.22:46323584 - 46510799 on Build GRCh38	Loss	GTSE1 CELSR1 TRMU
nsv471214	Chr.22:46278315 - 46367774 on Build GRCh38	Loss	GTSE1-AS1 GTSE1 CELSR1 TTC38 TRMU
nsv1066865	Chr.22:46352413 - 46490139 on Build GRCh38	Gain	CELSR1 TRMU

More Information

Additional Information:

For this assay, SNP(s) [rs79596926] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

RNA metabolism protein, RNA methyltransferase, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

tRNA wobble position uridine thiolation
mitochondrial tRNA thio-modification

Function(s)

tRNA binding
ATP binding
sulfurtransferase activity