Hs01129689_cn

• Gene Symbol: NSUN4
• Assay Reference Genome Location: Chr.1:46344951 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSUN4	NM_001256127.1	2	839	NP_001243056.1
	NM_001256128.1	2	471	NP_001243057.1
	NM_199044.3	2	894	NP_950245.2
	NR_045789.1	3	1069
	NR_045790.1	2	894
	NR_045791.1
	AK021577.1	2	348	BAB13847.1
	AK057420.1	2	830
	AK097524.1
	AK128066.1	2	2610	BAC87258.1
	AK291741.1	2	267
	AK292353.1	2	445
	AK295003.1	3	439
	AK311009.1	3	807
	BC014441.1	2	315	AAH14441.1
	BM153143.1	2	354
	BX360729.2	2	326
	BX648592.1	2	283
	DA799314.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3577837	Chr.1:46338361 - 46357126 on Build GRCh38	Loss	NSUN4
nsv829748	Chr.1:46258836 - 46410450 on Build GRCh38	Loss	LRRC41 RAD54L UQCRH FAAH NSUN4
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	LINC01398 POMGNT1 MAST2 PIK3R3 RAD54L FAAHP1 UQCRH MKNK1 DMBX1 LOC101929626 LRRC41 LURAP1 MKNK1-AS1 TSPAN1 FAAH KNCN NSUN4
nsv546162	Chr.1:46341925 - 46405089 on Build GRCh38	Loss	FAAH NSUN4

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