Hs02130663_cn

• Gene Symbol: DDX47
• Assay Reference Genome Location: Chr.12:12813467 on build GRCh38
• Cytoband: 12p13.1

Target Gene Details

• Entrez Gene ID: 51202
• Gene Name: DEAD-box helicase 47
• Gene Aliases: E4-DBP, HQ0256, MSTP162, RRP3
• Location: Chr.12:12813346-12829981 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX47	NM_016355.3			NP_057439.2
	NM_201224.1			NP_957518.1
	AF078843.1			AAF23354.1
	AF190165.1			AAQ13709.1
	AJ276704.1			CAC14786.1
	AK054574.1			BAB70762.1
	AK222940.1			BAD96660.1
	AK225144.1
	AK302536.1
	AK310501.1
	AL136666.1			CAB66601.1
	AL833469.1
	BC009379.2			AAH09379.2
	BC068009.1			AAH68009.1
	EF036507.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2745567	Chr.12:12246086 - 13092998 on Build GRCh38	Deletion	CREBL2 APOLD1 LRP6 LOC100506314 BORCS5 LOH12CR2 HEBP1 GPR19 MIR614 RPL13AP20 LOC105369662 MIR613 DUSP16 CDKN1B MANSC1 DDX47 GSG1 FAM234B HTR7P1 GPRC5D GPRC5A
nsv1046355	Chr.12:11501836 - 12890185 on Build GRCh38	Loss	CREBL2 APOLD1 LRP6 BORCS5 LOH12CR2 GPR19 RPL13AP20 LOC105369662 LOC100506248 MIR613 DUSP16 CDKN1B MIR1244-4 BCL2L14 ETV6 MANSC1 DDX47 LINC01252

More Information

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

Gene Ontology Categories:

Process(es)

rRNA processing
mRNA processing
RNA splicing
extrinsic apoptotic signaling pathway via death domain receptors
RNA secondary structure unwinding

Function(s)

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