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          • Home
          • › Search Tool
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          • › Hs02012093_cn
          See other FGFR1 CNV Assays ›
          Gene Symbol
          FGFR1
          Assay Reference Genome
          Location

          Chr.8:38426205 on build GRCh38
          Cytoband
          Assay ID Hs02012093_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your Price
          Online offer:
          Check your price ›
          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          2260

          Gene Name:

          fibroblast growth factor receptor 1

          Gene Aliases:

          BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1, FLG, FLT-2, FLT2, HBGFR, HH2, HRTFDS, KAL2, N-SAM, OGD, bFGF-R-1

          Location:

          Chr.8:38411143-38468635 on Build GRCh38

          Assay Gene Location:

          Overlaps Intron 8 - Exon 9
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          FGFR1 NM_001174063.2 NP_001167534.1
          NM_001174064.2 NP_001167535.1
          NM_001174065.2 NP_001167536.1
          NM_001174066.2 NP_001167537.1
          NM_001174067.2 NP_001167538.1
          NM_001354367.2 NP_001341296.1
          NM_001354368.2 NP_001341297.1
          NM_001354369.2 NP_001341298.1
          NM_001354370.2 NP_001341299.1
          NM_001410922.1 NP_001397851.1
          NM_015850.4 NP_056934.2
          NM_023105.3 NP_075593.1
          NM_023106.3 NP_075594.1
          NM_023110.3 NP_075598.2
          AB208919.1 BAD92156.1
          AK222718.1 BAD96438.1
          AK223126.1 BAD96846.1
          AK291754.1 BAF84443.1
          AK292470.1 BAF85159.1
          AK309947.1
          BC015035.1 AAH15035.1
          BC018128.1 AAH18128.1
          BC091494.1 AAH91494.1
          BX649167.1
          EU826596.1 ACF47632.1
          EU826597.1 ACF47633.1
          FJ809916.1 ACO38645.1
          FJ809917.1 ACO38646.1
          KP769544.1 AKS36876.1
          KU178066.1 ALQ33524.1
          KU178067.1 ALQ33525.1
          KU178068.1 ALQ33526.1
          KU178069.1 ALQ33527.1
          KU178070.1 ALQ33528.1
          M34185.1 AAA35836.1
          M34186.1 AAA35837.1
          M34187.1 AAA35838.1
          M34188.1 AAA35839.1
          M34641.1 AAA35835.1
          M37722.1 AAA75007.1
          M60485.1 AAA35840.1
          M63887.1 AAA35958.1
          M63888.1 AAA35959.1
          M63889.1 AAA35960.1
          S76658.1 AAD14230.1
          X51803.1 CAA36101.1
          X52833.1 CAA37015.1
          X57118.1 CAA40400.1
          X57119.1 CAA40401.1
          X57120.1 CAA40402.1
          X57121.1 CAA40403.1
          X57122.1 CAA40404.1
          X66945.1 CAA47375.1
          Y00665.1 CAA68679.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv1017064 Chr.8:38421087 - 38432979 on Build GRCh38 Gain FGFR1

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          More Information


          Set Membership:

          Intragenic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          MAPK cascade
          skeletal system development
          angiogenesis
          ureteric bud development
          in utero embryonic development
          organ induction
          neuron migration
          epithelial to mesenchymal transition
          positive regulation of mesenchymal cell proliferation
          chondrocyte differentiation
          protein phosphorylation
          brain development
          salivary gland morphogenesis
          sensory perception of sound
          cell proliferation
          positive regulation of cell proliferation
          fibroblast growth factor receptor signaling pathway
          mesenchymal cell proliferation
          gene expression
          regulation of gene expression
          positive regulation of phospholipase activity
          positive regulation of macromolecule metabolic process
          negative regulation of gene expression
          regulation of phosphate transport
          positive regulation of neuron projection development
          cell migration
          peptidyl-tyrosine phosphorylation
          orbitofrontal cortex development
          ventricular zone neuroblast division
          cell projection assembly
          lung development
          embryonic limb morphogenesis
          midbrain development
          neuron projection development
          fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
          inner ear morphogenesis
          outer ear morphogenesis
          middle ear morphogenesis
          chordate embryonic development
          positive regulation of MAP kinase activity
          positive regulation of MAPK cascade
          positive regulation of blood vessel endothelial cell migration
          ear development
          cellular response to fibroblast growth factor stimulus
          regulation of cell differentiation
          positive regulation of cell differentiation
          positive regulation of neuron differentiation
          positive regulation of cell cycle
          protein autophosphorylation
          phosphatidylinositol-mediated signaling
          paraxial mesoderm development
          regulation of lateral mesodermal cell fate specification
          cell maturation
          blood vessel morphogenesis
          generation of neurons
          skeletal system morphogenesis
          mesenchymal cell differentiation
          stem cell differentiation
          regulation of epithelial cell proliferation
          regulation of phosphorus metabolic process
          positive regulation of protein kinase B signaling
          calcium ion homeostasis
          cardiac muscle cell proliferation
          positive regulation of cardiac muscle cell proliferation
          auditory receptor cell development
          branching involved in salivary gland morphogenesis
          lung-associated mesenchyme development
          regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling
          vitamin D3 metabolic process
          diphosphate metabolic process
          cementum mineralization
          stem cell proliferation
          regulation of primary metabolic process
          positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
          negative regulation of fibroblast growth factor production
          regulation of postsynaptic density assembly
          positive regulation of mitotic cell cycle DNA replication
          response to sodium phosphate
          positive regulation of vascular endothelial cell proliferation
          positive regulation of stem cell proliferation
          positive regulation of parathyroid hormone secretion
          positive regulation of endothelial cell chemotaxis
          regulation of extrinsic apoptotic signaling pathway in absence of ligand
          nucleotide binding
          protein kinase activity
          protein tyrosine kinase activity
          transmembrane receptor protein tyrosine kinase activity
          fibroblast growth factor-activated receptor activity
          protein binding
          ATP binding
          heparin binding
          kinase activity
          transferase activity
          fibroblast growth factor binding
          SH2 domain binding
          identical protein binding
          protein homodimerization activity
          receptor-receptor interaction

          Back To Top

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