Hs04034650_cn

• Gene Symbol: DDRGK1
• Assay Reference Genome Location: Chr.20:3199455 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 65992
• Gene Name: DDRGK domain containing 1
• Gene Aliases: C20orf116, UFBP1, dJ1187M17.3
• Location: Chr.20:3190350-3204697 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DDRGK1	NM_023935.2			NP_076424.1
	AK310809.1
	BC000643.1			AAH00643.1
	BC007957.1			AAH07957.1
	BC011851.1			AAH11851.1
	CB305409.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1067207	Chr.20:3191285 - 3404426 on Build GRCh38	Gain	ITPA DDRGK1 SLC4A11 C20orf194
nsv585276	Chr.20:3030542 - 3366307 on Build GRCh38	Gain	LZTS3 ITPA OXT GNRH2 SLC4A11 UBOX5 AVP MRPS26 C20orf194 DDRGK1 PTPRA UBOX5-AS1 FASTKD5
nsv528355	Chr.20:3190691 - 3242579 on Build GRCh38	Loss	ITPA DDRGK1 SLC4A11
nsv833898	Chr.20:3147423 - 3309891 on Build GRCh38	Gain+Loss	LZTS3 ITPA DDRGK1 UBOX5-AS1 SLC4A11 FASTKD5 UBOX5 C20orf194

More Information

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

Gene Ontology Categories:

Process(es)

regulation of intracellular estrogen receptor signaling pathway
response to endoplasmic reticulum stress
positive regulation of NF-kappaB transcription factor activity
positive regulation of proteasomal protein catabolic process
positive regulation of I-kappaB phosphorylation
protein K69-linked ufmylation

Function(s)

protein binding
ubiquitin-like protein ligase binding