Hs01348586_cn

• Gene Symbol: DDX49
• Assay Reference Genome Location: Chr.19:18926312 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: Overlaps Intron 10 - Exon 11

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
	BX647408.1

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	LOC102724360 COPE UPF1 HOMER3 CERS1 DDX49 GDF1
nsv833778	Chr.19:18901860 - 19090678 on Build GRCh38	Loss	LOC102724360 COPE SUGP2 SLC25A42 HOMER3 ARMC6 DDX49
nsv1151217	Chr.19:18627369 - 19284914 on Build GRCh38	Deletion	LOC102724360 MEF2B KLHL26 BORCS8-MEF2B COPE UPF1 CRTC1 NR2C2AP SUGP1 ARMC6 CERS1 DDX49 GDF1 BORCS8 TM6SF2 SUGP2 SLC25A42 COMP TMEM161A NCAN HOMER3 RFXANK HAPLN4
nsv952423	Chr.19:18859292 - 18941091 on Build GRCh38	Deletion	LOC102724360 COPE UPF1 HOMER3 CERS1 DDX49 GDF1

More Information

• 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