Hs00611797_cn

• Gene Symbol: NSUN4
• Assay Reference Genome Location: Chr.1:46363268 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 387338
• Gene Name: NOP2/Sun RNA methyltransferase family member 4
• Gene Aliases: SHTAP
• Location: Chr.1:46340177-46365152 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSUN4	NM_001256127.1	6	3172	NP_001243056.1
	NM_001256128.1	6	2804	NP_001243057.1
	NM_199044.3	6	3227	NP_950245.2
	NR_045789.1	7	3402
	NR_045790.1	5	3072
	NR_045791.1	5	2890
	BX648592.1	5	2461

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829748	Chr.1:46258836 - 46410450 on Build GRCh38	Loss	RAD54L LRRC41 UQCRH NSUN4 FAAH
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	POMGNT1 MKNK1-AS1 LOC101929626 UQCRH LINC01398 MAST2 FAAH MKNK1 FAAHP1 PIK3R3 KNCN TSPAN1 RAD54L LRRC41 DMBX1 LURAP1 NSUN4
nsv546162	Chr.1:46341925 - 46405089 on Build GRCh38	Loss	NSUN4 FAAH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

rRNA methylation
mature ribosome assembly
positive regulation of mitochondrial translation

Function(s)

protein binding
methyltransferase activity
small ribosomal subunit rRNA binding