Hs02762023_cn

• Gene Symbol: MRM3
• Assay Reference Genome Location: Chr.17:783081 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 Intron 1 - Exon 2

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
	BI830018.1

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	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 C17orf97 FAM101B MRM3 LOC105371430
dgv3075n100	Chr.17:779849 - 816212 on Build GRCh38	Loss	NXN GLOD4 MRM3
dgv3074n100	Chr.17:717681 - 865635 on Build GRCh38	Gain	FAM57A NXN GEMIN4 GLOD4 DBIL5P MRM3
nsv1057000	Chr.17:664913 - 866713 on Build GRCh38	Gain	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 MRM3
dgv5389n54	Chr.17:633174 - 937565 on Build GRCh38	Gain	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 MRM3 LOC101927727
nsv1064955	Chr.17:567977 - 797758 on Build GRCh38	Gain	FAM57A GEMIN4 GLOD4 DBIL5P VPS53 MRM3
nsv1062294	Chr.17:763991 - 888052 on Build GRCh38	Loss	NXN GLOD4 MRM3
esv2758673	Chr.17:718346 - 1158111 on Build GRCh38	Gain	MIR3183 FAM57A NXN GEMIN4 GLOD4 DBIL5P ABR MRM3 TIMM22 LOC100130876 LOC101927727
esv3639641	Chr.17:776211 - 827076 on Build GRCh38	Gain	NXN GLOD4 MRM3
nsv469891	Chr.17:663703 - 837834 on Build GRCh38	Loss	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 MRM3
nsv1058033	Chr.17:780240 - 832122 on Build GRCh38	Loss	NXN GLOD4 MRM3
nsv1063272	Chr.17:707786 - 789280 on Build GRCh38	Gain	FAM57A GEMIN4 GLOD4 DBIL5P VPS53 MRM3
dgv5387n54	Chr.17:494867 - 994065 on Build GRCh38	Loss	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 MRM3 LOC100130876 LOC101927727
dgv3071n100	Chr.17:150721 - 853554 on Build GRCh38	Gain	FAM57A GEMIN4 LOC100506371 C17orf97 NXN DOC2B GLOD4 DBIL5P VPS53 FAM101B MRM3 RPH3AL LOC100506388 LOC105371430
esv3639625	Chr.17:425092 - 895536 on Build GRCh38	Gain	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 FAM101B MRM3
dgv3072n100	Chr.17:410957 - 881396 on Build GRCh38	Gain	FAM57A NXN GEMIN4 GLOD4 DBIL5P VPS53 C17orf97 FAM101B MRM3 LOC105371430
esv2422420	Chr.17:210752 - 1113141 on Build GRCh38	Duplication	FAM57A GEMIN4 C17orf97 LOC100130876 MIR3183 NXN GLOD4 DBIL5P VPS53 ABR FAM101B MRM3 RPH3AL LOC100506388 TIMM22 LOC105371430 LOC101927727
esv3892944	Chr.17:368038 - 947302 on Build GRCh38	Gain	FAM57A GEMIN4 C17orf97 LOC100130876 NXN GLOD4 DBIL5P VPS53 FAM101B MRM3 RPH3AL LOC105371430 LOC101927727

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