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          • Home
          • › Search Tool
          • › Search Results
          • › Hs03702040_cn
          See other FXN CNV Assays ›
          Gene Symbol
          FXN
          Assay Reference Genome
          Location

          Chr.9:69039629 on build GRCh38
          Cytoband
          9q21.11
          Assay ID Hs03702040_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          2395

          Gene Name:

          frataxin

          Gene Aliases:

          CyaY, FA, FARR, FRDA, X25

          Location:

          Chr.9:69035563-69100178 on Build GRCh38

          Assay Gene Location:

          Within Intron 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          FXN NM_000144.4 NP_000135.2
          NM_001161706.1 NP_001155178.1
          NM_181425.2 NP_852090.1
          AK308620.1
          BC023633.2 AAH23633.1
          BC048097.1 AAH48097.1
          BF058880.1
          KU178079.1
          KU178080.1
          U43747.1 AAA98510.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv3891679 Chr.9:68939243 - 69246082 on Build GRCh38 Gain PIP5K1B PRKACG TJP2 FXN LOC101927069
          dgv7666n100 Chr.9:68896889 - 69228107 on Build GRCh38 Gain PIP5K1B PRKACG TJP2 FXN LOC101927069
          esv3576657 Chr.9:68955164 - 69227475 on Build GRCh38 Gain PIP5K1B PRKACG TJP2 FXN LOC101927069
          esv2422258 Chr.9:68619929 - 69048424 on Build GRCh38 Duplication PIP5K1B LOC105376072 PRKACG FAM122A FXN LOC101927069
          nsv614548 Chr.9:68856996 - 69320661 on Build GRCh38 Gain PIP5K1B BANCR PRKACG TJP2 FXN LOC101927069
          esv3891678 Chr.9:68918451 - 69144626 on Build GRCh38 Gain PIP5K1B PRKACG TJP2 FXN LOC101927069
          nsv466393 Chr.9:68838527 - 69089911 on Build GRCh38 Gain PIP5K1B PRKACG FXN LOC101927069
          dgv7665n100 Chr.9:68783797 - 69356369 on Build GRCh38 Gain PIP5K1B BANCR PRKACG FAM122A TJP2 FXN LOC101927069 FAM189A2
          nsv614550 Chr.9:68959841 - 69228107 on Build GRCh38 Gain PIP5K1B PRKACG TJP2 FXN LOC101927069
          nsv614551 Chr.9:68997975 - 69056200 on Build GRCh38 Loss PIP5K1B PRKACG FXN
          nsv614549 Chr.9:68891543 - 69044364 on Build GRCh38 Gain PIP5K1B PRKACG FXN LOC101927069

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          transfer/carrier protein

          Gene Ontology Categories:

          Function(s) Process(es)

          oxidative phosphorylation
          heme biosynthetic process
          ion transport
          cellular iron ion homeostasis
          mitochondrion organization
          adult walking behavior
          positive regulation of cell proliferation
          aerobic respiration
          embryo development ending in birth or egg hatching
          response to iron ion
          regulation of ferrochelatase activity
          protein autoprocessing
          iron incorporation into metallo-sulfur cluster
          proprioception
          positive regulation of cell growth
          negative regulation of multicellular organism growth
          negative regulation of apoptotic process
          positive regulation of catalytic activity
          small molecule metabolic process
          negative regulation of organ growth
          positive regulation of lyase activity
          cellular response to hydrogen peroxide
          negative regulation of release of cytochrome c from mitochondria
          positive regulation of succinate dehydrogenase activity
          positive regulation of aconitate hydratase activity
          ferroxidase activity
          protein binding
          ferrous iron binding
          ferric iron binding
          iron chaperone activity
          iron-sulfur cluster binding
          2 iron, 2 sulfur cluster binding

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