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          • Home
          • › Search Tool
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          • › Hs04037747_cn
          See other DDRGK1 CNV Assays ›
          Gene Symbol
          DDRGK1
          Assay Reference Genome
          Location

          Chr.20:3202501 on build GRCh38
          Cytoband
          Assay ID Hs04037747_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          65992

          Gene Name:

          DDRGK domain containing 1

          Gene Aliases:

          C20orf116, SEMDSH, UFBP1, dJ1187M17.3

          Location:

          Chr.20:3190350-3204682 on Build GRCh38

          Assay Gene Location:

          Within Intron 2
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          DDRGK1 NM_023935.3 NP_076424.1
          AK310809.1
          BC000643.1 AAH00643.1
          BC007957.1 AAH07957.1
          BC011851.1 AAH11851.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1067207 Chr.20:3191285 - 3404426 on Build GRCh38 Gain DNAAF9 ITPA DDRGK1 SLC4A11
          nsv585276 Chr.20:3030542 - 3366307 on Build GRCh38 Gain LZTS3 UBOX5 AVP FASTKD5 SLC4A11 PTPRA GNRH2 DNAAF9 MRPS26 ITPA UBOX5-AS1 OXT DDRGK1
          nsv6529546 Chr.20:3191107 - 3407325 on Build GRCh38 Duplication DNAAF9 ITPA DDRGK1 SLC4A11
          nsv833898 Chr.20:3147423 - 3309891 on Build GRCh38 Gain+Loss DNAAF9 ITPA LZTS3 UBOX5 UBOX5-AS1 FASTKD5 DDRGK1 SLC4A11
          nsv528355 Chr.20:3190691 - 3242579 on Build GRCh38 Loss ITPA DDRGK1 SLC4A11
          nsv6051678 Chr.20:2825780 - 3839984 on Build GRCh38 Deletion HSPA12B SIGLEC1 SPEF1 ATRN UBOX5 CDC25B ITPA CENPB UBOX5-AS1 OXT DDRGK1 ADAM33 LZTS3 AVP GFRA4 AP5S1 LINC01730 FASTKD5 SLC4A11 PTPRA ADISSP GNRH2 DNAAF9 MRPS26 VPS16 PCED1A
          nsv6056758 Chr.20:2822519 - 3839994 on Build GRCh38 Duplication HSPA12B SIGLEC1 SPEF1 ATRN UBOX5 CDC25B ITPA CENPB UBOX5-AS1 OXT DDRGK1 ADAM33 LZTS3 AVP GFRA4 AP5S1 LINC01730 FASTKD5 SLC4A11 PTPRA ADISSP GNRH2 DNAAF9 MRPS26 VPS16 PCED1A

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          blood circulation
          positive regulation of cell proliferation
          positive regulation of gene expression
          negative regulation of gene expression
          positive regulation of cell migration
          regulation of protein stability
          negative regulation of proteasomal ubiquitin-dependent protein catabolic process
          positive regulation of proteasomal ubiquitin-dependent protein catabolic process
          ribosome disassembly
          regulation of intracellular estrogen receptor signaling pathway
          response to endoplasmic reticulum stress
          negative regulation of apoptotic process
          positive regulation of I-kappaB kinase/NF-kappaB signaling
          positive regulation of transcription from RNA polymerase II promoter
          positive regulation of NF-kappaB transcription factor activity
          cartilage development
          reticulophagy
          protein localization to endoplasmic reticulum
          protein ufmylation
          rescue of stalled ribosome
          positive regulation of reticulophagy
          positive regulation of plasma cell differentiation
          positive regulation of proteasomal protein catabolic process
          positive regulation of cell cycle G1/S phase transition
          positive regulation of proteolysis involved in cellular protein catabolic process
          positive regulation of I-kappaB phosphorylation
          negative regulation of IRE1-mediated unfolded protein response
          negative regulation of PERK-mediated unfolded protein response
          positive regulation of protein localization to endoplasmic reticulum
          protein K69-linked ufmylation
          protein binding
          ubiquitin-like protein ligase binding
          UFM1-modified protein reader activity

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