Hs03374835_cn

• Gene Symbol: NSUN4
• Assay Reference Genome Location: Chr.1:46354560 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 Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSUN4	NM_001256127.1			NP_001243056.1
	NM_001256128.1			NP_001243057.1
	NM_199044.3			NP_950245.2
	NR_045789.1
	NR_045790.1
	NR_045791.1
	AK021577.1			BAB13847.1
	AK057420.1
	AK097524.1
	AK128066.1			BAC87258.1
	AK291741.1
	AK292353.1
	AK295003.1
	BC014441.1			AAH14441.1
	BX360729.2
	BX648592.1
	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
nsv159955	Chr.1:46347871 - 46354655 on Build GRCh38	Deletion	NSUN4
nsv829748	Chr.1:46258836 - 46410450 on Build GRCh38	Loss	RAD54L UQCRH FAAH NSUN4 LRRC41
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	TSPAN1 RAD54L MKNK1 UQCRH FAAH PIK3R3 LINC01398 LRRC41 MAST2 DMBX1 LOC101929626 LURAP1 FAAHP1 NSUN4 KNCN MKNK1-AS1 POMGNT1
nsv546162	Chr.1:46341925 - 46405089 on Build GRCh38	Loss	FAAH NSUN4

More Information

Additional Information:

For this assay, SNP(s) [rs113111433] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-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