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          • › Hs04069981_cn
          See other PFKL CNV Assays ›
          Gene Symbol
          PFKL
          Assay Reference Genome
          Location

          Chr.21:44309538 on build GRCh38
          Cytoband
          Assay ID Hs04069981_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:

          5211

          Gene Name:

          phosphofructokinase, liver type

          Gene Aliases:

          ATP-PFK, PFK-B, PFK-L

          Location:

          Chr.21:44300053-44327373 on Build GRCh38

          Assay Gene Location:

          Within Intron 7
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PFKL NM_001002021.3 NP_001002021.2
          NM_002626.6 NP_002617.3
          XM_005261135.4 XP_005261192.1
          XM_005261137.5 XP_005261194.1
          XM_006724011.2 XP_006724074.1
          XM_017028369.2 XP_016883858.1
          XM_024452085.2 XP_024307853.1
          XM_047440822.1 XP_047296778.1
          XM_047440823.1 XP_047296779.1
          XM_047440824.1 XP_047296780.1
          XM_047440825.1 XP_047296781.1
          AB209127.1 BAD92364.1
          AK091488.1
          AK303605.1 BAG64620.1
          AK308437.1
          BC006422.1 AAH06422.1
          BC007536.1 AAH07536.1
          BC008964.2 AAH08964.1
          BC009919.2 AAH09919.1
          CB997055.1
          HY111158.1
          X15573.1 CAA33597.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv953646 Chr.21:44279118 - 44523117 on Build GRCh38 Deletion TRPM2-AS AIRE LRRC3 TRPM2 TSPEAR-AS1 LRRC3-DT CFAP410 PFKL LINC02575 TSPEAR TSPEAR-AS2
          nsv1058359 Chr.21:44304172 - 44547662 on Build GRCh38 Gain KRTAP10-1 TRPM2-AS LRRC3 TRPM2 TSPEAR-AS1 LRRC3-DT CFAP410 PFKL LINC02575 TSPEAR TSPEAR-AS2
          esv2723638 Chr.21:44249174 - 44593709 on Build GRCh38 Deletion KRTAP10-3 DNMT3L TRPM2-AS KRTAP10-5 TRPM2 TSPEAR-AS1 DNMT3L-AS1 PFKL TSPEAR KRTAP10-4 KRTAP10-6 KRTAP10-1 AIRE LRRC3 LRRC3-DT CFAP410 KRTAP10-2 LINC02575 TSPEAR-AS2
          nsv509800 Chr.21:44284048 - 44471571 on Build GRCh38 Insertion TRPM2-AS AIRE LRRC3 TRPM2 LRRC3-DT CFAP410 PFKL
          nsv6041254 Chr.21:44287180 - 44349861 on Build GRCh38 Deletion AIRE CFAP410 PFKL
          nsv587779 Chr.21:44300477 - 44330463 on Build GRCh38 Loss CFAP410 PFKL
          nsv587740 Chr.21:44209682 - 44429981 on Build GRCh38 Loss DNMT3L TRPM2-AS AIRE TRPM2 DNMT3L-AS1 CFAP410 PFKL ICOSLG
          nsv6553846 Chr.21:44306061 - 44353372 on Build GRCh38 Deletion TRPM2 CFAP410 PFKL
          esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss TRPM2-AS TRPM2 TRAPPC10 KRTAP10-11 KRTAP10-10 RRP1 PFKL KRTAP10-6 PWP2 CSTB LRRC3 AATBC LRRC3-DT CFAP410 KRTAP10-9 LOC105372832 GATD3 AGPAT3 KRTAP10-3 DNMT3L KRTAP10-5 TSPEAR-AS1 DNMT3L-AS1 PDXK KRTAP10-8 TSPEAR KRTAP10-7 KRTAP10-4 KRTAP10-1 AIRE LINC01678 KRTAP10-2 ICOSLG LINC02575 TSPEAR-AS2
          nsv587780 Chr.21:44302559 - 44344514 on Build GRCh38 Loss CFAP410 PFKL
          nsv4283103 Chr.21:43950580 - 44658488 on Build GRCh38 Duplication TRPM2-AS TRPM2 TRAPPC10 KRTAP10-11 KRTAP10-10 PFKL KRTAP10-6 PWP2 LRRC3 LRRC3-DT CFAP410 KRTAP12-4 KRTAP10-9 LOC105372832 KRTAP12-3 GATD3 AGPAT3 KRTAP10-3 DNMT3L KRTAP10-5 TSPEAR-AS1 DNMT3L-AS1 KRTAP10-8 TSPEAR KRTAP10-7 KRTAP10-4 KRTAP10-1 AIRE LINC01678 KRTAP10-2 ICOSLG LINC02575 TSPEAR-AS2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          fructose 6-phosphate metabolic process
          glycolytic process
          response to glucose
          fructose 1,6-bisphosphate metabolic process
          negative regulation of insulin secretion
          glycolytic process through fructose-6-phosphate
          canonical glycolysis
          nucleotide binding
          catalytic activity
          6-phosphofructokinase activity
          protein binding
          ATP binding
          kinase activity
          transferase activity
          kinase binding
          identical protein binding
          metal ion binding
          monosaccharide binding
          fructose binding
          fructose-6-phosphate binding

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