Hs00831845_cn

• Gene Symbol: MRM3
• Assay Reference Genome Location: Chr.17:792491 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 55178
• Gene Name: mitochondrial rRNA methyltransferase 3
• Gene Aliases: RMTL1, RNMTL1
• Location: Chr.17:782329-792509 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRM3	NM_001317947.1			NP_001304876.1
	NM_018146.3			NP_060616.1
	AF177344.2			AAG17988.2
	AK001443.1			BAA91694.1
	AK222900.1			BAD96620.1
	AK225128.1
	BC011550.1			AAH11550.1
	BC050614.1			AAH50614.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5386n54	Chr.17:407766 - 816212 on Build GRCh38	Gain	VPS53 FAM101B GEMIN4 DBIL5P FAM57A MRM3 LOC105371430 NXN GLOD4 C17orf97
dgv3075n100	Chr.17:779849 - 816212 on Build GRCh38	Loss	MRM3 NXN GLOD4
esv35056	Chr.17:789280 - 950392 on Build GRCh38	Gain	LOC100130876 LOC101927727 MRM3 NXN
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	GEMIN4 DBIL5P FAM57A MRM3 NXN GLOD4
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	VPS53 GEMIN4 DBIL5P FAM57A MRM3 NXN GLOD4
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	VPS53 GEMIN4 DBIL5P FAM57A LOC101927727 MRM3 NXN GLOD4
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	VPS53 GEMIN4 DBIL5P FAM57A MRM3 GLOD4
nsv1062294	Chr.17:763991 - 888052 on Build GRCh38	Loss	MRM3 NXN GLOD4
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	GEMIN4 TIMM22 DBIL5P ABR MIR3183 FAM57A LOC100130876 LOC101927727 MRM3 NXN GLOD4
esv3639641	Chr.17:776211 - 827076 on Build GRCh38	Gain	MRM3 NXN GLOD4
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	VPS53 GEMIN4 DBIL5P FAM57A MRM3 NXN GLOD4
nsv1058033	Chr.17:780240 - 832122 on Build GRCh38	Loss	MRM3 NXN GLOD4
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	VPS53 GEMIN4 DBIL5P FAM57A LOC100130876 LOC101927727 MRM3 NXN GLOD4
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	FAM101B LOC100506388 DBIL5P LOC100506371 MRM3 LOC105371430 VPS53 RPH3AL DOC2B GEMIN4 FAM57A NXN GLOD4 C17orf97
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	VPS53 FAM101B GEMIN4 DBIL5P FAM57A MRM3 NXN GLOD4
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	VPS53 FAM101B GEMIN4 DBIL5P FAM57A MRM3 LOC105371430 NXN GLOD4 C17orf97
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	FAM101B LOC100506388 DBIL5P ABR MIR3183 MRM3 LOC105371430 VPS53 RPH3AL GEMIN4 TIMM22 FAM57A LOC100130876 LOC101927727 NXN GLOD4 C17orf97
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	FAM101B DBIL5P MRM3 LOC105371430 VPS53 RPH3AL GEMIN4 FAM57A LOC100130876 LOC101927727 NXN GLOD4 C17orf97

More Information

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

Panther Classification:

Molecular Function -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

RNA methylation
rRNA processing

Function(s)

RNA binding
protein binding
methyltransferase activity
RNA methyltransferase activity
poly(A) RNA binding