Hs01996470_cn

• Gene Symbol: NSUN4
• Assay Reference Genome Location: Chr.1:46362542 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	2446	NP_001243056.1
	NM_001256128.1	6	2078	NP_001243057.1
	NM_199044.3	6	2501	NP_950245.2
	NR_045789.1	7	2676
	NR_045790.1	5	2346
	NR_045791.1	5	2164
	BX648592.1	5	1735

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	UQCRH NSUN4 RAD54L LRRC41 FAAH
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	MKNK1 UQCRH NSUN4 MAST2 LOC101929626 DMBX1 FAAH LURAP1 KNCN POMGNT1 RAD54L LINC01398 PIK3R3 MKNK1-AS1 LRRC41 TSPAN1 FAAHP1
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