Hs02294620_cn

• Gene Symbol: NSUN5
• Assay Reference Genome Location: Chr.7:73308419 on build GRCh38
• Cytoband: 7q11.23

Target Gene Details

• Entrez Gene ID: 55695
• Gene Name: NOP2/Sun RNA methyltransferase family member 5
• Gene Aliases: NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)
• Location: Chr.7:73302516-73308867 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSUN5	NM_001168347.2			NP_001161819.1
	NM_001168348.2			NP_001161820.1
	NM_018044.4			NP_060514.1
	NM_148956.3			NP_683759.1
	XM_005277604.4			XP_005277661.1
	AF412028.1			AAM62310.1
	AF420249.1			AAL16067.1
	AK001129.1			BAA91515.1
	AK098619.1
	AK125667.1	2	254
	AK126375.1
	AK298221.1
	AK315361.1
	BC008084.2			AAH08084.1
	CB154882.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759537	Chr.7:72446485 - 73461568 on Build GRCh38	Gain+Loss	PMS2P6 LOC100101148 SPDYE11 STAG3L3 SBDSP1 PMS2P7 MIR4650-2 SPDYE8P FKBP6 CALN1 NSUN5P2 SPDYE7P NSUN5 NCF1B GTF2IRD2P1 TYW1B GTF2IP4 TRIM74 BAZ1B TRIM50 POM121 FZD9
nsv1161563	Chr.7:72932296 - 73309388 on Build GRCh38	Deletion	PMS2P6 LOC100101148 SPDYE11 STAG3L3 PMS2P7 SPDYE8P NSUN5P2 NSUN5 NCF1B GTF2IRD2P1 GTF2IP4 TRIM74 POM121
nsv831027	Chr.7:73173922 - 73442066 on Build GRCh38	Loss	NSUN5 NCF1B FKBP6 GTF2IRD2P1 GTF2IP4 BAZ1B TRIM50 FZD9
dgv6466n100	Chr.7:73245562 - 73420814 on Build GRCh38	Gain	NSUN5 FKBP6 GTF2IRD2P1 TRIM50
nsv970531	Chr.7:73291991 - 73324627 on Build GRCh38	Duplication	NSUN5 TRIM50
nsv520573	Chr.7:72578056 - 73336343 on Build GRCh38	Gain+Loss	PMS2P6 LOC100101148 SPDYE11 STAG3L3 SBDSP1 PMS2P7 MIR4650-2 SPDYE8P FKBP6 NSUN5P2 SPDYE7P NSUN5 NCF1B GTF2IRD2P1 TYW1B GTF2IP4 TRIM74 TRIM50 POM121

More Information

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

Gene Ontology Categories:

Process(es)

rRNA base methylation

Function(s)

RNA methyltransferase activity
S-adenosylmethionine-dependent methyltransferase activity
poly(A) RNA binding