Hs02082117_cn

• Gene Symbol: DDX54
• Assay Reference Genome Location: Chr.12:113165861 on build GRCh38
• Cytoband: 12q24.13

Target Gene Details

• Entrez Gene ID: 79039
• Gene Name: DEAD-box helicase 54
• Gene Aliases: DP97
• Location: Chr.12:113157173-113185479 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX54	NM_001111322.1	13	1614	NP_001104792.1
	NM_024072.3	13	1614	NP_076977.3
	AF478457.1	13	1614	AAL85336.1
	AY148094.1	13	1593	AAN59978.1
	BC005848.2	13	1535	AAH05848.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519540	Chr.12:113042705 - 113459599 on Build GRCh38	Gain+Loss	MIR6762 DDX54 DTX1 RASAL1 TPCN1 RITA1 SLC8B1 MIR7106 PLBD2 SDSL SDS IQCD CFAP73
esv996809	Chr.12:113160789 - 113174565 on Build GRCh38	Deletion	DDX54
dgv2884n54	Chr.12:113115603 - 113166364 on Build GRCh38	Loss	MIR7106 DDX54 RASAL1 CFAP73
esv3892265	Chr.12:113099321 - 113527932 on Build GRCh38	Gain	MIR6762 DDX54 RASAL1 LHX5 TPCN1 LHX5-AS1 RITA1 SLC8B1 MIR7106 PLBD2 SDSL SDS IQCD CFAP73
esv3630792	Chr.12:112988703 - 113838810 on Build GRCh38	Gain	MIR6762 DDX54 DTX1 RASAL1 LHX5 OAS2 LINC01234 TPCN1 LHX5-AS1 RITA1 SLC8B1 MIR7106 RBM19 PLBD2 SDSL SDS IQCD CFAP73

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
RNA processing
RNA secondary structure unwinding
RNA metabolic process
intracellular estrogen receptor signaling pathway
negative regulation of nucleic acid-templated transcription

Function(s)

transcription corepressor activity
ATP-dependent RNA helicase activity
receptor binding
ATP binding
estrogen receptor binding
poly(A) RNA binding