Hs07147106_cn

• Gene Symbol: DDX49
• Assay Reference Genome Location: Chr.19:18920303 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 54555
• Gene Name: DEAD-box helicase 49
• Gene Aliases: R27090_2
• Location: Chr.19:18919675-18928633 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX49	NM_019070.4			NP_061943.2
	NR_033677.1
	XM_011528083.1			XP_011526385.1
	XM_011528084.2			XP_011526386.1
	AK001294.1			BAA91606.1
	AK223294.1			BAD97014.1
	AK291916.1
	BC000979.3			AAH00979.2
	BC002674.2			AAH02674.1
	BP252678.1
	BX647408.1
	DA136213.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470132	Chr.19:18853633 - 18943911 on Build GRCh38	Loss	HOMER3 COPE DDX49 LOC102724360 GDF1 CERS1 UPF1
nsv833778	Chr.19:18901860 - 19090678 on Build GRCh38	Loss	SUGP2 HOMER3 COPE DDX49 SLC25A42 LOC102724360 ARMC6
nsv1151217	Chr.19:18627369 - 19284914 on Build GRCh38	Deletion	SUGP2 SUGP1 MEF2B DDX49 KLHL26 SLC25A42 LOC102724360 CRTC1 ARMC6 BORCS8-MEF2B GDF1 TM6SF2 NR2C2AP NCAN HAPLN4 TMEM161A BORCS8 UPF1 HOMER3 COMP COPE RFXANK CERS1
nsv833777	Chr.19:18765126 - 18920267 on Build GRCh38	Loss	COMP COPE DDX49 CRTC1 GDF1 CERS1 UPF1
nsv952423	Chr.19:18859292 - 18941091 on Build GRCh38	Deletion	HOMER3 COPE DDX49 LOC102724360 GDF1 CERS1 UPF1

More Information

• Set Membership: Intragenic, Intronic, 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