Hs01519782_cn

• Gene Symbol: DDX53
• Assay Reference Genome Location: Chr.X:23000024 on build GRCh38
• Cytoband: Xp22.11

Target Gene Details

• Entrez Gene ID: 168400
• Gene Name: DEAD-box helicase 53
• Gene Aliases: CAGE, CT26
• Location: Chr.X:22999961-23002089 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX53	NM_182699.3	1	64	NP_874358.2
	AY039237.1	1	69	AAK72102.1
	BC067878.1	1	55	AAH67878.1

Target Gene Details

• Entrez Gene ID: 100873065
• Gene Name: PTCHD1 antisense RNA (head to head)
• Gene Aliases: DDX53-AS1, PTCHD1AS1, PTCHD1AS2
• Location: Chr.X:22193005-23293146 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTCHD1-AS	NR_073010.2
	BX115199.1
	DA355362.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3573648	Chr.X:22953327 - 23080815 on Build GRCh38	Loss	DDX53 PTCHD1-AS

More Information

Additional Information:

For this assay, SNP(s) [rs113939667] 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, Exonic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

RNA secondary structure unwinding

Function(s)

RNA binding
ATP-dependent RNA helicase activity
ATP binding