Hs01551229_cn

• Gene Symbol: GTPBP3
• Assay Reference Genome Location: Chr.19:17339523 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 84705
• Gene Name: GTP binding protein 3 (mitochondrial)
• Gene Aliases: COXPD23, GTPBG3, MSS1, MTGP1, THDF1
• Location: Chr.19:17334982-17342731 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTPBP3	NM_001128855.2	7	993	NP_001122327.1
	NM_001195422.1	7	986	NP_001182351.1
	NM_032620.3	7	993	NP_116009.2
	NM_133644.3	6	1089	NP_598399.2
	AF360742.1	7	955	AAK39555.1
	AF360743.1	7	955	AAK39556.1
	AF360744.1	7	935	AAK39557.1
	AK027606.1	7	940	BAB55228.1
	AK091035.1	6	1794
	AK291929.1	7	937
	AK297953.1	7	968
	AK310794.1
	AK311442.1	7	1056
	AY078987.1	6	1051	AAL85492.1
	AY078988.1	7	955	AAL85493.1
	BC008924.2	5	533
	BC017207.2	7	925	AAH17207.1
	BC019261.1	7	934	AAH19261.1
	BM789389.1	4	457
	DA490131.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833768	Chr.19:17338840 - 17526738 on Build GRCh38	Loss	SLC27A1 NXNL1 GTPBP3 MVB12A PLVAP FAM129C BST2 TMEM221 LOC105372343 BISPR PGLS
nsv578741	Chr.19:17335702 - 17339637 on Build GRCh38	Gain	GTPBP3
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	MYO9B DDA1 ANO8 NR2F6 OCEL1 GTPBP3 ABHD8 MRPL34 USE1 ANKLE1 USHBP1 BABAM1
esv21604	Chr.19:17332440 - 17339470 on Build GRCh38	Gain	ANO8 GTPBP3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

tRNA wobble uridine modification
tRNA methylation

Function(s)

GTPase activity
protein binding
GTP binding