Hs01251377_cn

• Gene Symbol: DDX28
• Assay Reference Genome Location: Chr.16:68023066 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	802	NP_060850.2
	AK002144.1	1	377	BAA92106.1
	BC024273.1	1	144	AAH24273.1
	CF993871.1
	DA159162.1	1	160

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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DUS2	NM_001271762.1	1	123	NP_001258691.1
	NM_001271763.1	1	123	NP_001258692.1
	NM_017803.4	1	123	NP_060273.1
	DC397403.1	1	123

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	GFOD2 ELMO3 TRADD KIAA0895L LOC105369155 MIR328 LRRC29 CARMIL2 TSNAXIP1 LRRC36 EXOC3L1 ZDHHC1 TPPP3 ENKD1 PLEKHG4 NUTF2 CTRL NRN1L EDC4 RANBP10 C16orf86 PSKH1 KCTD19 SLC12A4 FHOD1 HSD11B2 DPEP2 LOC107984813 LOC100505942 FAM65A CTCF LCAT NOL3 E2F4 AGRP TMEM208 PARD6A HSF4 FBXL8 ATP6V0D1 DUS2 CENPT ACD DDX28 DPEP3 LOC100131303 SLC9A5 THAP11 PSMB10
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	GFOD2 ELMO3 TRADD KIAA0895L LOC105369155 MIR328 LRRC29 CARMIL2 TSNAXIP1 LRRC36 EXOC3L1 ZDHHC1 TPPP3 ENKD1 PLEKHG4 NUTF2 CTRL NRN1L EDC4 RANBP10 C16orf86 PSKH1 KCTD19 SLC12A4 FHOD1 HSD11B2 DPEP2 LOC107984813 LOC100505942 FAM65A CTCF LCAT NOL3 E2F4 AGRP TMEM208 PARD6A B3GNT9 HSF4 FBXL8 ATP6V0D1 DUS2 CENPT ACD DDX28 DPEP3 C16orf70 LOC100131303 SLC9A5 THAP11 PSMB10

More Information

• Set Membership: Intragenic, 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