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          • › Hs00865740_cn
          See other RTEL1 CNV Assays ›
          Gene Symbol
          RTEL1
          Assay Reference Genome
          Location

          Chr.20:63688049 on build GRCh38
          Cytoband
          Assay ID Hs00865740_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          51750

          Gene Name:

          regulator of telomere elongation helicase 1

          Gene Aliases:

          C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL

          Location:

          Chr.20:63657810-63696253 on Build GRCh38

          Assay Gene Location:

          Overlaps Exon 18 - Intron 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RTEL1 NM_001283009.2 NP_001269938.1
          NM_001283010.1 NP_001269939.1
          NM_016434.4 NP_057518.1
          NM_032957.5 NP_116575.3
          AF217795.1 AAF33687.1
          AK299332.1 BAG61337.1
          AK302508.1 BAG63785.1
          AK304798.1 BAG65548.1
          JX119186.1 AGE89266.1

          Target Gene Details

          Entrez Gene ID:

          100533107

          Gene Name:

          RTEL1-TNFRSF6B readthrough (NMD candidate)

          Gene Aliases:

          -

          Location:

          Chr.20:63657810-63698698 on Build GRCh38

          Assay Gene Location:

          Overlaps Exon 18 - Intron 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RTEL1-TNFRSF6B NR_037882.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv3233991 Chr.20:63652317 - 63697457 on Build GRCh38 Insertion STMN3 TNFRSF6B RTEL1 RTEL1-TNFRSF6B
          dgv7676n54 Chr.20:63686867 - 63702868 on Build GRCh38 Loss TNFRSF6B ARFRP1 RTEL1 RTEL1-TNFRSF6B
          nsv953308 Chr.20:63650148 - 63831847 on Build GRCh38 Deletion SLC2A4RG ZBTB46 STMN3 ZBTB46-AS2 TNFRSF6B ARFRP1 RTEL1 ZBTB46-AS1 RTEL1-TNFRSF6B ZGPAT LIME1
          nsv1160690 Chr.20:63639552 - 63744287 on Build GRCh38 Deletion SLC2A4RG ZBTB46 STMN3 ZBTB46-AS2 TNFRSF6B ARFRP1 RTEL1 RTEL1-TNFRSF6B ZGPAT LIME1
          nsv189 Chr.20:63675224 - 63696350 on Build GRCh38 Insertion RTEL1 RTEL1-TNFRSF6B
          nsv428381 Chr.20:63583375 - 64334167 on Build GRCh38 Gain+Loss PCMTD2 UCKL1 SAMD10 PRPF6 ZBTB46 TNFRSF6B GMEB2 RTEL1 MIR941-1 LKAAEAR1 ZBTB46-AS1 LIME1 MIR1914 SLC2A4RG MYT1 STMN3 C20orf204 MIR6813 C20orf181 SOX18 ZGPAT MHENCR MIR941-4 SEPTIN14P20 ABHD16B ZBTB46-AS2 RGS19 LOC124904951 TPD52L2 OPRL1 ABHD16B-AS1 MIR647 TCEA2 MIR941-5 MIR941-2 ARFRP1 MIR941-3 NPBWR2 RTEL1-TNFRSF6B ZNF512B UCKL1-AS1 DNAJC5
          nsv586611 Chr.20:63680946 - 63709340 on Build GRCh38 Loss TNFRSF6B ARFRP1 RTEL1 RTEL1-TNFRSF6B ZGPAT
          nsv470563 Chr.20:63486715 - 63793308 on Build GRCh38 Loss PPDPF FNDC11 ZBTB46 ZBTB46-AS2 TNFRSF6B GMEB2 RTEL1 SRMS EEF1A2 LIME1 SLC2A4RG HELZ2 PTK6 STMN3 ARFRP1 RTEL1-TNFRSF6B ZGPAT MHENCR
          esv2758806 Chr.20:63470996 - 63745014 on Build GRCh38 Gain+Loss PPDPF FNDC11 ZBTB46 ZBTB46-AS2 TNFRSF6B GMEB2 RTEL1 SRMS EEF1A2 LIME1 SLC2A4RG KCNQ2 HELZ2 PTK6 STMN3 ARFRP1 RTEL1-TNFRSF6B ZGPAT MHENCR
          dgv5385n152 Chr.20:63666510 - 63697457 on Build GRCh38 Insertion TNFRSF6B RTEL1 RTEL1-TNFRSF6B
          nsv3112040 Chr.20:63677185 - 63710529 on Build GRCh38 Deletion TNFRSF6B ARFRP1 RTEL1 RTEL1-TNFRSF6B ZGPAT

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          More Information


          Set Membership:

          Intragenic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          regulation of DNA recombination
          telomere maintenance
          strand displacement
          nucleobase-containing compound metabolic process
          DNA replication
          DNA repair
          DNA recombination
          cellular response to DNA damage stimulus
          regulation of double-strand break repair via homologous recombination
          replication fork processing
          positive regulation of telomere maintenance
          telomere maintenance in response to DNA damage
          negative regulation of DNA recombination
          regulation of cellular response to stress
          telomeric loop disassembly
          mitotic telomere maintenance via semi-conservative replication
          positive regulation of telomere capping
          positive regulation of telomere maintenance via telomere lengthening
          negative regulation of t-circle formation
          negative regulation of telomere maintenance in response to DNA damage
          positive regulation of telomeric loop disassembly
          nucleotide binding
          nucleic acid binding
          DNA binding
          DNA helicase activity
          helicase activity
          protein binding
          ATP binding
          hydrolase activity
          hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
          isomerase activity
          ATPase activity
          metal ion binding
          iron-sulfur cluster binding
          4 iron, 4 sulfur cluster binding
          DNA polymerase binding

          Back To Top

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