Hs00971296_cn

• Gene Symbol: DDX28
• Assay Reference Genome Location: Chr.16:68023737 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	131	NP_060850.2
	CF993871.1	1	157

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

More Information

• Set Membership: Intragenic, Exonic, Intronic, 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