Hs01126592_cn

• Gene Symbol: DDX28
• Assay Reference Genome Location: Chr.16:68023358 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	510	NP_060850.2
	AK002144.1	1	85	BAA92106.1
	CF993871.1	1	536

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 - Intron 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
	AB101210.1			BAE07219.1
	AK000406.1			BAA91143.1
	AK290578.1
	AK296663.1
	BC006527.2			AAH06527.1
	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	DDX28 LOC100131303 DUS2
nsv522852	Chr.16:67153308 - 68071571 on Build GRCh38	Gain	KIAA0895L CENPT ELMO3 TSNAXIP1 AGRP LRRC36 FHOD1 EXOC3L1 HSD11B2 DPEP2 LRRC29 PLEKHG4 FAM65A PSKH1 EDC4 ATP6V0D1 HSF4 DPEP3 NOL3 LOC107984813 LOC100505942 FBXL8 DDX28 THAP11 SLC9A5 DUS2 GFOD2 KCTD19 TPPP3 ZDHHC1 NUTF2 LOC100131303 RANBP10 NRN1L ACD TRADD TMEM208 CARMIL2 LOC105369155 PARD6A E2F4 ENKD1 CTCF PSMB10 SLC12A4 LCAT CTRL C16orf86 MIR328
esv3638897	Chr.16:68004075 - 68045657 on Build GRCh38	Loss	DDX28 LOC100131303 DUS2
esv3638899	Chr.16:68008886 - 68035332 on Build GRCh38	Loss	DDX28 LOC100131303 DUS2
nsv524363	Chr.16:67136529 - 68071571 on Build GRCh38	Loss	KIAA0895L CENPT ELMO3 TSNAXIP1 AGRP LRRC36 FHOD1 EXOC3L1 HSD11B2 DPEP2 LRRC29 PLEKHG4 FAM65A PSKH1 EDC4 ATP6V0D1 HSF4 DPEP3 NOL3 C16orf70 LOC107984813 LOC100505942 FBXL8 DDX28 THAP11 SLC9A5 DUS2 GFOD2 B3GNT9 KCTD19 TPPP3 ZDHHC1 NUTF2 LOC100131303 RANBP10 NRN1L ACD TRADD TMEM208 CARMIL2 LOC105369155 PARD6A E2F4 ENKD1 CTCF PSMB10 SLC12A4 LCAT CTRL C16orf86 MIR328

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