Hs00371003_cn

• Gene Symbol: DDX51
• Assay Reference Genome Location: Chr.12:132142178 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 317781
• Gene Name: DEAD-box helicase 51
• Gene Aliases: -
• Location: Chr.12:132136594-132144335 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX51	NM_175066.3			NP_778236.2
	XM_011538256.1			XP_011536558.1
	AB593157.1
	AK097078.1			BAC04942.1
	AL079273.1
	BC040185.2			AAH40185.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952511	Chr.12:132132756 - 132182155 on Build GRCh38	Deletion	NOC4L DDX51
nsv1041402	Chr.12:132076412 - 132441297 on Build GRCh38	Gain	LOC105370092 LOC100130238 LOC101928416 NOC4L EP400NL GALNT9 DDX51 EP400
nsv944	Chr.12:132138516 - 132164483 on Build GRCh38	Insertion	NOC4L DDX51
nsv826563	Chr.12:132125383 - 132622340 on Build GRCh38	Gain	LOC105370092 LOC100130238 LOC101928416 LOC100996573 EP400NL MIR6763 LRCOL1 NOC4L FBRSL1 P2RX2 MUC8 GALNT9 DDX51
nsv509493	Chr.12:132092623 - 132165751 on Build GRCh38	Insertion	NOC4L EP400NL DDX51
nsv560935	Chr.12:132134511 - 132150976 on Build GRCh38	Loss	NOC4L DDX51
dgv103n21	Chr.12:132117051 - 132442096 on Build GRCh38	Loss	LOC105370092 LOC100130238 LOC101928416 NOC4L EP400NL GALNT9 DDX51
nsv428285	Chr.12:132065104 - 132208513 on Build GRCh38	Gain	NOC4L EP400NL GALNT9 DDX51 EP400

More Information

Additional Information:

For this assay, SNP(s) [rs201907915] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

rRNA processing
RNA secondary structure unwinding

Function(s)

ATP-dependent RNA helicase activity
ATP binding
poly(A) RNA binding