Hs01427225_cn

• Gene Symbol: DDX28
• Assay Reference Genome Location: Chr.16:68022915 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 55794
• Gene Name: DEAD-box helicase 28
• Gene Aliases: MDDX28
• Location: Chr.16:68021274-68023867 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDX28	NM_018380.3	1	953	NP_060850.2
	AK002144.1	1	528	BAA92106.1
	BC024273.1	1	295	AAH24273.1
	DA159162.1	1	311

Target Gene Details

• Entrez Gene ID: 54920
• Gene Name: dihydrouridine synthase 2
• Gene Aliases: DUS2L, SMM1, URLC8
• Location: Chr.16:68022944-68079323 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DUS2	NM_001271762.1			NP_001258691.1
	NM_001271763.1			NP_001258692.1
	NM_017803.4			NP_060273.1
	DC397403.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2666619	Chr.16:68003989 - 68045407 on Build GRCh38	Deletion	LOC100131303 DUS2 DDX28
nsv522852	Chr.16:67153308 - 68071571 on Build GRCh38	Gain	E2F4 FAM65A FHOD1 MIR328 EDC4 ATP6V0D1 TRADD DDX28 PSMB10 AGRP TPPP3 ELMO3 ENKD1 LOC107984813 NRN1L NOL3 C16orf86 SLC12A4 NUTF2 CTRL ZDHHC1 THAP11 CARMIL2 CENPT HSD11B2 RANBP10 CTCF EXOC3L1 TSNAXIP1 PSKH1 HSF4 FBXL8 TMEM208 PLEKHG4 LOC100505942 ACD PARD6A KIAA0895L LRRC36 SLC9A5 KCTD19 DUS2 DPEP3 LOC100131303 LCAT LOC105369155 DPEP2 LRRC29 GFOD2
esv3638897	Chr.16:68004075 - 68045657 on Build GRCh38	Loss	LOC100131303 DUS2 DDX28
esv3638899	Chr.16:68008886 - 68035332 on Build GRCh38	Loss	LOC100131303 DUS2 DDX28
nsv524363	Chr.16:67136529 - 68071571 on Build GRCh38	Loss	E2F4 FAM65A FHOD1 MIR328 EDC4 ATP6V0D1 TRADD DDX28 PSMB10 AGRP TPPP3 ELMO3 ENKD1 LOC107984813 NRN1L B3GNT9 NOL3 C16orf86 SLC12A4 NUTF2 CTRL ZDHHC1 C16orf70 THAP11 CARMIL2 CENPT HSD11B2 RANBP10 CTCF EXOC3L1 TSNAXIP1 PSKH1 HSF4 FBXL8 TMEM208 PLEKHG4 LOC100505942 ACD PARD6A KIAA0895L LRRC36 SLC9A5 KCTD19 DUS2 DPEP3 LOC100131303 LCAT LOC105369155 DPEP2 LRRC29 GFOD2

More Information

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

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Process(es)

RNA secondary structure unwinding
mitochondrial large ribosomal subunit assembly
tRNA dihydrouridine synthesis
negative regulation of protein kinase activity
oxidation-reduction process
negative regulation of cell death

Function(s)

ATP-dependent RNA helicase activity
ATP binding
rRNA binding
poly(A) RNA binding
double-stranded RNA binding
protein kinase inhibitor activity
protein binding
tRNA dihydrouridine synthase activity
flavin adenine dinucleotide binding