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          • Home
          • › Search Tool
          • › Search Results
          • › Hs04374797_cn
          See other HIF1AN CNV Assays ›
          Gene Symbol
          HIF1AN
          Assay Reference Genome
          Location

          Chr.10:100538040 on build GRCh38
          Cytoband
          10q24.31
          Assay ID Hs04374797_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:

          55662

          Gene Name:

          hypoxia inducible factor 1 alpha subunit inhibitor

          Gene Aliases:

          FIH1

          Location:

          Chr.10:100535884-100553924 on Build GRCh38

          Assay Gene Location:

          Within Intron 2
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          HIF1AN NM_017902.2 NP_060372.2
          XM_011539940.2 XP_011538242.1
          XM_011539941.1 XP_011538243.1
          AF395830.1 AAL27308.1
          AK000622.1 BAA91291.1
          AK295353.1
          AL359615.1 CAB94885.1
          BC007719.2 AAH07719.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv7519 Chr.10:100517567 - 100539513 on Build GRCh38 Insertion NDUFB8 HIF1AN SEC31B
          nsv831963 Chr.10:100458231 - 100678922 on Build GRCh38 Loss NDUFB8 HIF1AN WNT8B SEC31B
          nsv831962 Chr.10:100406551 - 100593251 on Build GRCh38 Gain NDUFB8 HIF1AN WNT8B SEC31B
          esv2759779 Chr.10:100392093 - 100805979 on Build GRCh38 Gain+Loss NDUFB8 HIF1AN WNT8B SEC31B PAX2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          transcription, DNA-templated
          peptidyl-histidine hydroxylation
          peptidyl-aspartic acid hydroxylation
          peptidyl-asparagine hydroxylation
          positive regulation of myoblast differentiation
          negative regulation of Notch signaling pathway
          oxidation-reduction process
          regulation of transcription from RNA polymerase II promoter in response to hypoxia
          negative regulation of transcription from RNA polymerase II promoter in response to hypoxia
          positive regulation of vasculogenesis
          Notch binding
          iron ion binding
          protein binding
          zinc ion binding
          oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
          oxygen sensor activity
          carboxylic acid binding
          peptidyl-histidine dioxygenase activity
          peptidyl-asparagine 3-dioxygenase activity
          protein homodimerization activity
          cofactor binding
          NF-kappaB binding
          ankyrin repeat binding

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