Hs03550117_cn

• Gene Symbol: FGFR4
• Assay Reference Genome Location: Chr.5:177088976 on build GRCh38
• Cytoband: 5q35.2

Target Gene Details

• Entrez Gene ID: 2264
• Gene Name: fibroblast growth factor receptor 4
• Gene Aliases: CD334, JTK2, TKF
• Location: Chr.5:177086872-177098144 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FGFR4	NM_001291980.1			NP_001278909.1
	NM_002011.4			NP_002002.3
	NM_213647.2			NP_998812.1
	XM_005265838.3			XP_005265895.1
	XM_011534464.2			XP_011532766.1
	XM_011534465.2			XP_011532767.1
	AB209631.1	1	538	BAD92868.1
	AK225280.1
	AK225909.1
	AK301169.1
	BC011847.2			AAH11847.1
	BM453707.1
	L03840.1			AAB59389.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv823351	Chr.5:177079996 - 177144595 on Build GRCh38	Gain	FGFR4 NSD1 ZNF346
dgv363n21	Chr.5:176931607 - 177242486 on Build GRCh38	Gain	FGFR4 NSD1 ZNF346 UIMC1
nsv509101	Chr.5:177044099 - 177135363 on Build GRCh38	Insertion	FGFR4 NSD1 ZNF346

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

MAPK cascade
positive regulation of cell proliferation
fibroblast growth factor receptor signaling pathway
positive regulation of gene expression
regulation of extracellular matrix disassembly
regulation of phosphatidylinositol 3-kinase signaling
cell migration
peptidyl-tyrosine phosphorylation
regulation of lipid metabolic process
phosphatidylinositol-3-phosphate biosynthetic process
glucose homeostasis
positive regulation of catalytic activity
positive regulation of GTPase activity
positive regulation of proteolysis
protein autophosphorylation
phosphatidylinositol phosphorylation
phosphatidylinositol-mediated signaling
phosphate ion homeostasis
positive regulation of ERK1 and ERK2 cascade
regulation of bile acid biosynthetic process
response to bile acid
regulation of cholesterol homeostasis
positive regulation of DNA biosynthetic process

Function(s)

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
phosphatidylinositol-4,5-bisphosphate 3-kinase activity