Hs02389121_cn

• Gene Symbol: FGFR1
• Assay Reference Genome Location: Chr.8:38411959 on build GRCh38
• Cytoband: 8p11.23

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.8:38411138-38468834 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FGFR1	NM_001174063.1	18	5074	NP_001167534.1
	NM_001174064.1	19	5142	NP_001167535.1
	NM_001174065.1	18	4394	NP_001167536.1
	NM_001174066.1	17	4133	NP_001167537.1
	NM_001174067.1	19	4554	NP_001167538.1
	NM_015850.3	18	5074	NP_056934.2
	NM_023105.2	17	4813	NP_075593.1
	NM_023106.2	17	4807	NP_075594.1
	NM_023110.2	18	5080	NP_075598.2
	XM_006716303.2	18	3672	XP_006716366.1
	XM_006716304.1	18	3188	XP_006716367.1
	XM_006716306.2	18	3666	XP_006716369.1
	XM_006716307.1	18	3182	XP_006716370.1
	XM_006716309.3	18	3642	XP_006716372.1
	XM_006716310.2	17	3405	XP_006716373.1
	XM_006716311.1	17	2803	XP_006716374.1
	XM_006716312.1	17	2873	XP_006716375.1
	XM_006716313.2	17	3399	XP_006716376.1
	XM_006716314.1	17	2877	XP_006716377.1
	XM_011544443.2	18	3177	XP_011542745.1
	XM_011544444.1	18	3166	XP_011542746.1
	XM_011544445.2	18	3179	XP_011542747.1
	XM_011544446.2	18	4381	XP_011542748.1
	XM_011544447.2	18	4375	XP_011542749.1
	XM_011544448.1	17	2776	XP_011542750.1
	XM_011544449.1	17	2770	XP_011542751.1
	XM_011544450.2	17	3979	XP_011542752.1
	XM_011544451.1	16	2639	XP_011542753.1
	XM_017013219.1	18	3167	XP_016868708.1
	XM_017013220.1	18	4369	XP_016868709.1
	XM_017013221.1	19	3381	XP_016868710.1
	XM_017013222.1	18	3666	XP_016868711.1
	XM_017013223.1	18	3176	XP_016868712.1
	XM_017013224.1	18	4869	XP_016868713.1
	XM_017013225.1	18	4352	XP_016868714.1
	XM_017013226.1	17	3979	XP_016868715.1
	XM_017013227.1	17	3973	XP_016868716.1
	XM_017013228.1	17	4602	XP_016868717.1
	XM_017013229.1	12	3352	XP_016868718.1
	XM_017013230.1	16	5167	XP_016868719.1
	AF173898.1	1	146	AAQ13645.1
	AK130555.1	1	114
	BQ774633.1	1	354
	FJ809917.1	18	5089

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv951128	Chr.8:38411783 - 38418282 on Build GRCh38	Deletion	FGFR1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

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
positive regulation of mesenchymal cell proliferation
chondrocyte differentiation
transcription, DNA-templated
protein phosphorylation
sensory perception of sound
positive regulation of cell proliferation
fibroblast growth factor receptor signaling pathway
positive regulation of phospholipase activity
positive regulation of phospholipase C activity
positive regulation of neuron projection development
regulation of phosphatidylinositol 3-kinase signaling
positive regulation of phosphatidylinositol 3-kinase signaling
cell migration
peptidyl-tyrosine phosphorylation
stem cell population maintenance
motogenic signaling involved in postnatal olfactory bulb interneuron migration
ventricular zone neuroblast division
embryonic limb morphogenesis
midbrain development
neuron projection development
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development
phosphatidylinositol-3-phosphate biosynthetic process
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 GTPase activity
regulation of cell differentiation
positive regulation of neuron differentiation
negative regulation of osteoblast differentiation
positive regulation of cell cycle
protein autophosphorylation
phosphatidylinositol phosphorylation
phosphatidylinositol-mediated signaling
paraxial mesoderm development
regulation of lateral mesodermal cell fate specification
cell maturation
skeletal system morphogenesis
mesenchymal cell differentiation
regulation of sensory perception of pain
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
regulation of stem cell proliferation
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway
positive regulation of endothelial cell chemotaxis to fibroblast growth factor
regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

glycoprotein binding
protein tyrosine kinase activity
fibroblast growth factor-activated receptor activity
Ras guanyl-nucleotide exchange factor activity
protein binding
ATP binding
heparin binding
1-phosphatidylinositol-3-kinase activity
fibroblast growth factor binding
protein complex binding
identical protein binding
protein homodimerization activity
phosphatidylinositol-4,5-bisphosphate 3-kinase activity
cell adhesion molecule binding