GenTIGS

Fibroblast growth factor receptor 1 (FGFR1) Associated conditions: 1. Osteoglophonic dysplasia 2. Encephalocraniocutaneous lipomatosis 3. Neuroblastoma 4. Pfeiffer syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001174063.2	NP_001167534.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001174064.2	NP_001167535.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001174065.2	NP_001167536.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001174066.2	NP_001167537.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_001174067.2	NP_001167538.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
6	REVIEWED	NM_001354367.2	NP_001341296.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
7	REVIEWED	NM_001354368.2	NP_001341297.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
8	REVIEWED	NM_001354369.2	NP_001341298.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
9	REVIEWED	NM_001354370.2	NP_001341299.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
10	REVIEWED	NM_001410922.1	NP_001397851.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
11	REVIEWED	NM_015850.4	NP_056934.2	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
12	REVIEWED	NM_023105.3	NP_075593.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
13	REVIEWED	NM_023106.3	NP_075594.1	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-
14	REVIEWED	NM_023110.3	NP_075598.2	NC_000008.11	(38411142..38468634, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1760 reference articles

Variant Information Fibroblast growth factor receptor 1 (FGFR1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Fibroblast growth factor receptor 1 (FGFR1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	negative regulation of transcription by RNA polymerase II	Process	-
2	Homo sapiens	TAS	involved_in	MAPK cascade	Process	10748122
3	Homo sapiens	IEA	enables	nucleotide binding	Function	-
4	Homo sapiens	TAS	involved_in	skeletal system development	Process	7874169
5	Homo sapiens	TAS	involved_in	neuron migration	Process	15863030
6	Homo sapiens	IMP	involved_in	epithelial to mesenchymal transition	Process	26451614
7	Homo sapiens	IEA	enables	protein kinase activity	Function	-
8	Homo sapiens	IDA	enables	protein tyrosine kinase activity	Function	8622701
9	Homo sapiens	IEA	enables	protein tyrosine kinase activity	Function	-
10	Homo sapiens	IEA	enables	transmembrane receptor protein tyrosine kinase activity	Function	-
11	Homo sapiens	IBA	enables	fibroblast growth factor receptor activity	Function	-
12	Homo sapiens	IDA	enables	fibroblast growth factor receptor activity	Function	18480409 20133753
13	Homo sapiens	IEA	enables	fibroblast growth factor receptor activity	Function	-
14	Homo sapiens	TAS	enables	fibroblast growth factor receptor activity	Function	2167437 10748122
15	Homo sapiens	IPI	enables	protein binding	Function	1656221 8321198 8753773 9660748 10490103 10830168 11030354 11401320 14613973 17086194 18412956 18441324 19665973 19696444 19966287 20932831 21765395 22035699 22751148 22939624 23063561 23597562 23597563 24157794 25241761 25485703 26267536 31980649 32814053 33961781 35384245
16	Homo sapiens	IEA	enables	ATP binding	Function	-
17	Homo sapiens	NAS	located_in	extracellular region	Component	1652059
18	Homo sapiens	IEA	located_in	nucleus	Component	-
19	Homo sapiens	IEA	located_in	cytosol	Component	-
20	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
21	Homo sapiens	IDA	located_in	plasma membrane	Component	18480409
22	Homo sapiens	IEA	located_in	plasma membrane	Component	-
23	Homo sapiens	TAS	located_in	plasma membrane	Component	10918587
24	Homo sapiens	NAS	involved_in	protein phosphorylation	Process	1846977 2159626
25	Homo sapiens	IDA	enables	heparin binding	Function	18480409
26	Homo sapiens	IEA	enables	heparin binding	Function	-
27	Homo sapiens	IBA	involved_in	positive regulation of cell population proliferation	Process	-
28	Homo sapiens	IDA	involved_in	positive regulation of cell population proliferation	Process	8663044
29	Homo sapiens	IEA	involved_in	positive regulation of cell population proliferation	Process	-
30	Homo sapiens	IGI	acts_upstream_of_or_within	positive regulation of cell population proliferation	Process	8663044
31	Homo sapiens	IMP	involved_in	positive regulation of cell population proliferation	Process	8622701
32	Homo sapiens	IBA	involved_in	fibroblast growth factor receptor signaling pathway	Process	-
33	Homo sapiens	IDA	involved_in	fibroblast growth factor receptor signaling pathway	Process	8663044 18480409 21885851
34	Homo sapiens	IEA	involved_in	fibroblast growth factor receptor signaling pathway	Process	-
35	Homo sapiens	IGI	acts_upstream_of_or_within	fibroblast growth factor receptor signaling pathway	Process	8663044
36	Homo sapiens	IPI	acts_upstream_of_or_within	fibroblast growth factor receptor signaling pathway	Process	10830168
37	Homo sapiens	TAS	involved_in	fibroblast growth factor receptor signaling pathway	Process	10748122 22235191
38	Homo sapiens	IEA	involved_in	gene expression	Process	-
39	Homo sapiens	TAS	involved_in	positive regulation of phospholipase activity	Process	12141425
40	Homo sapiens	IEA	involved_in	positive regulation of macromolecule metabolic process	Process	-
41	Homo sapiens	IEA	located_in	membrane	Component	-
42	Homo sapiens	NAS	located_in	membrane	Component	1652059 1846977 2159626
43	Homo sapiens	IEA	enables	kinase activity	Function	-
44	Homo sapiens	TAS	involved_in	cell migration	Process	15863030
45	Homo sapiens	IEA	enables	transferase activity	Function	-
46	Homo sapiens	IBA	enables	fibroblast growth factor binding	Function	-
47	Homo sapiens	IDA	enables	fibroblast growth factor binding	Function	8663044 18480409
48	Homo sapiens	IEA	enables	fibroblast growth factor binding	Function	-
49	Homo sapiens	IDA	involved_in	peptidyl-tyrosine phosphorylation	Process	8622701
50	Homo sapiens	IEA	involved_in	orbitofrontal cortex development	Process	-
51	Homo sapiens	IEA	involved_in	ventricular zone neuroblast division	Process	-
52	Homo sapiens	IEA	located_in	cytoplasmic vesicle	Component	-
53	Homo sapiens	IEA	involved_in	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	Process	-
54	Homo sapiens	IEA	enables	SH2 domain binding	Function	-
55	Homo sapiens	IPI	enables	identical protein binding	Function	19696444 20133753
56	Homo sapiens	IPI	enables	protein homodimerization activity	Function	20133753
57	Homo sapiens	TAS	involved_in	chordate embryonic development	Process	15863030
58	Homo sapiens	IBA	part_of	receptor complex	Component	-
59	Homo sapiens	IDA	part_of	receptor complex	Component	23382219
60	Homo sapiens	IDA	involved_in	positive regulation of MAP kinase activity	Process	8622701
61	Homo sapiens	IBA	involved_in	positive regulation of MAPK cascade	Process	-
62	Homo sapiens	IEA	involved_in	positive regulation of MAPK cascade	Process	-
63	Homo sapiens	IGI	involved_in	positive regulation of MAPK cascade	Process	26451614
64	Homo sapiens	IMP	involved_in	positive regulation of MAPK cascade	Process	8622701
65	Homo sapiens	IGI	involved_in	positive regulation of blood vessel endothelial cell migration	Process	23263626
66	Homo sapiens	IDA	involved_in	cellular response to fibroblast growth factor stimulus	Process	21885851
67	Homo sapiens	TAS	involved_in	regulation of cell differentiation	Process	12141425
68	Homo sapiens	IBA	involved_in	positive regulation of cell differentiation	Process	-
69	Homo sapiens	IMP	involved_in	positive regulation of neuron differentiation	Process	8622701
70	Homo sapiens	IEA	involved_in	positive regulation of cell cycle	Process	-
71	Homo sapiens	IDA	involved_in	protein autophosphorylation	Process	8622701
72	Homo sapiens	TAS	involved_in	phosphatidylinositol-mediated signaling	Process	12141425
73	Homo sapiens	IEA	involved_in	generation of neurons	Process	-
74	Homo sapiens	IEA	involved_in	skeletal system morphogenesis	Process	-
75	Homo sapiens	TAS	involved_in	skeletal system morphogenesis	Process	15863030
76	Homo sapiens	IGI	involved_in	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	26451614
77	Homo sapiens	TAS	involved_in	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	15863030
78	Homo sapiens	IEA	involved_in	calcium ion homeostasis	Process	-
79	Homo sapiens	IEA	involved_in	diphosphate metabolic process	Process	-
80	Homo sapiens	IEA	involved_in	cementum mineralization	Process	-
81	Homo sapiens	IEA	involved_in	regulation of primary metabolic process	Process	-
82	Homo sapiens	IDA	enables	receptor-receptor interaction	Function	24157794
83	Homo sapiens	IEA	is_active_in	postsynapse	Component	-
84	Homo sapiens	IEA	is_active_in	glutamatergic synapse	Component	-
85	Homo sapiens	IEA	involved_in	regulation of postsynaptic density assembly	Process	-
86	Homo sapiens	IEA	involved_in	response to sodium phosphate	Process	-
87	Homo sapiens	IGI	involved_in	positive regulation of vascular endothelial cell proliferation	Process	23263626
88	Homo sapiens	IDA	involved_in	positive regulation of endothelial cell chemotaxis	Process	21885851