Hs06002378_cn

• Gene Symbol: DDX46
• Assay Reference Genome Location: Chr.5:134760428 on build GRCh38
• Cytoband: 5q31.1

Target Gene Details

• Entrez Gene ID: 9879
• Gene Name: DEAD-box helicase 46
• Gene Aliases: PRPF5, Prp5
• Location: Chr.5:134758734-134831138 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX46	NM_001300860.1			NP_001287789.1
	NM_014829.3			NP_055644.2
	NR_125341.1
	XM_011543758.1			XP_011542060.1
	AB018344.1
	AF106680.1			AAD43033.1
	AK126011.1
	AK291788.1
	BC012304.2			AAH12304.1
	BC105598.1
	BF244218.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3575882	Chr.5:134672959 - 134779811 on Build GRCh38	Gain	CAMLG SEC24A DDX46
nsv830493	Chr.5:134667777 - 134926221 on Build GRCh38	Loss	C5orf24 TXNDC15 PCBD2 CAMLG SEC24A DDX46

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome
regulation of gene expression
RNA secondary structure unwinding

Function(s)

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