FGFR1

fibroblast growth factor receptor 1, the group of I-set domain containing|CD molecules|Receptor tyrosine kinases

Basic information

Region (hg38): 8:38400214-38468834

Previous symbols: [ "FLT2", "KAL2" ]

Links

ENSG00000077782 ∙ NCBI:2260 ∙ OMIM:136350 ∙ HGNC:3688 ∙ Uniprot:P11362 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• osteoglophonic dwarfism (Definitive), mode of inheritance: AD
• hypogonadotropic hypogonadism 2 with or without anosmia (Definitive), mode of inheritance: AD
• Pfeiffer syndrome (Definitive), mode of inheritance: AD
• hypogonadotropic hypogonadism 7 with or without anosmia (Definitive), mode of inheritance: AD
• encephalocraniocutaneous lipomatosis (Definitive), mode of inheritance: Somatic mosaicism
• Hartsfield-Bixler-Demyer syndrome (Definitive), mode of inheritance: AD
• Pfeiffer syndrome (Strong), mode of inheritance: AD
• Jackson-Weiss syndrome (Strong), mode of inheritance: AD
• osteoglophonic dwarfism (Strong), mode of inheritance: AD
• Pfeiffer syndrome (Strong), mode of inheritance: AD
• Hartsfield-Bixler-Demyer syndrome (Moderate), mode of inheritance: AD
• hypogonadotropic hypogonadism 2 with or without anosmia (Definitive), mode of inheritance: AD
• osteoglophonic dwarfism (Moderate), mode of inheritance: AD
• holoprosencephaly (Supportive), mode of inheritance: AR
• Hartsfield-Bixler-Demyer syndrome (Supportive), mode of inheritance: AD
• osteoglophonic dwarfism (Supportive), mode of inheritance: AD
• septooptic dysplasia (Supportive), mode of inheritance: AD
• isolated trigonocephaly (Supportive), mode of inheritance: AD
• Kallmann syndrome (Supportive), mode of inheritance: AD
• hypogonadotropic hypogonadism (Supportive), mode of inheritance: AD
• Pfeiffer syndrome type 1 (Supportive), mode of inheritance: AD
• tooth agenesis (Supportive), mode of inheritance: AD
• encephalocraniocutaneous lipomatosis (Definitive), mode of inheritance: AD
• Pfeiffer syndrome (Strong), mode of inheritance: AD
• osteoglophonic dwarfism (Strong), mode of inheritance: AD
• hypogonadotropic hypogonadism 2 with or without anosmia (Strong), mode of inheritance: AD
• Pfeiffer syndrome type 1 (Definitive), mode of inheritance: AD
• osteoglophonic dwarfism (Limited), mode of inheritance: AD
• Hartsfield-Bixler-Demyer syndrome (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hypogonadotropic hypogonadism 2 with or without anosmia; Trigonocephaly 1; Jackson-Weiss syndrome; Pfeiffer syndrome	AD	Audiologic/Otolaryngologic; Endocrine	In Hypogonadotropic hypogonadism, surveillance in adolescence related to sexual maturation is indicated, as is monitoring of bone mineral density in order to allow early detection and treatment of disease; In order to induce and maintain secondary sex characteristics, gradually increasing doses of gonadal steroids (females: estrogen/progestin; males: testosterone/hCG) can be beneficial; Related to fertility, endocrinologic therapy (females: recombinant hCG or pulsatile GnRH therapy; males: hCG/HMG/recombinant FSH or pulsatile GnRH therapy) may be effective, though IVF may be required; Some individuals with FGFR1 variants may have hearing loss, and appropriate interventions may be beneficial as relates to language and speech development	Audiologic/Otolaryngologic; Craniofacial; Dental; Endocrine; Genitourinary; Musculoskeletal; Neurologic	14316612; 7422392; 6881209; 7874169; 8939381; 9475589; 11173846; 10861678; 11420131; 11297579; 2627230; 14564217; 16418210; 15625620; 16470795; 16606836; 17959774; 17360555; 20301509; 17235395; 22035731; 21700882; 23643382; 23812909; 25394172
Complex inheritance models, such as inolving digenic inheritance/synergistic effects (eg, with GNRHR, NELF, as well as other FGF8-network associated genes) has been reported

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGFR1 gene.

• not provided (306 variants)
• Hypogonadotropic hypogonadism 2 with or without anosmia (298 variants)
• Hypogonadotropic hypogonadism 2 with or without anosmia;Pfeiffer syndrome (232 variants)
• Osteoglophonic dysplasia (139 variants)
• Trigonocephaly 1 (134 variants)
• Craniosynostosis syndrome (134 variants)
• Pfeiffer syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia (123 variants)
• 7 conditions (74 variants)
• not specified (30 variants)
• Inborn genetic diseases (21 variants)
• Hartsfield-Bixler-Demyer syndrome (20 variants)
• FGFR1-related condition (14 variants)
• Hypogonadotropic hypogonadism 7 with or without anosmia (8 variants)
• Hypogonadotropic hypogonadism 2 with anosmia (7 variants)
• Delayed puberty (6 variants)
• Encephalocraniocutaneous lipomatosis (6 variants)
• Pfeiffer syndrome (5 variants)
• Hypogonadotropic hypogonadism (3 variants)
• Jackson-Weiss syndrome (2 variants)
• Hypogonadism with anosmia (2 variants)
• FGFR1-Related Disorders (2 variants)
• FGFR1-related disorder (1 variants)
• Pfeiffer syndrome type 1 (1 variants)
• Osteoglophonic dysplasia;Hartsfield-Bixler-Demyer syndrome;Hypogonadotropic hypogonadism 2 with or without anosmia (1 variants)
• Interfrontal craniofaciosynostosis (1 variants)
• Neuroblastoma (1 variants)
• See cases (1 variants)
• Infertility disorder (1 variants)
• Holoprosencephaly sequence (1 variants)
• Hypergonadotropic hypogonadism (1 variants)
• Martsolf syndrome 1 (1 variants)
• Craniosynostosis, nonspecific (1 variants)
• Astrocytoma (1 variants)
• Rosette-forming glioneuronal tumor (1 variants)
• Gastric adenocarcinoma (1 variants)
• Semilobar holoprosencephaly (1 variants)
• Neoplasm (1 variants)
• Mendelian syndromes with cleft lip/palate (1 variants)
• FGFR1-related craniosynostosis syndrome (1 variants)
• Medulloblastoma (1 variants)
• Brainstem glioma (1 variants)
• Pilomyxoid astrocytoma (1 variants)
• spinal cord mass (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGFR1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	89	5	102
missense	22	44	245	12	2	325
nonsense	16	8				24
start loss						0
frameshift	34	4	5			43
inframe indel		2	6	1		9
splice donor/acceptor (+/-2bp)	12	6	3			21
splice region	1	1	11	14	6	33
non coding			73	103	38	214
Total	84	64	340	205	45

Highest pathogenic variant AF is 0.0000197

Variants in FGFR1

This is a list of pathogenic ClinVar variants found in the FGFR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-38400360-G-C		not specified	Uncertain significance (Dec 20, 2023)
8-38400381-C-G		not specified	Uncertain significance (Dec 20, 2021)
8-38400893-G-A		not specified	Uncertain significance (Jan 10, 2022)
8-38400911-A-C		not specified	Uncertain significance (Mar 20, 2023)
8-38401050-T-G		not specified	Uncertain significance (Feb 07, 2023)
8-38402577-C-A		not specified	Uncertain significance (Feb 10, 2022)
8-38402589-G-A		not specified	Uncertain significance (May 27, 2022)
8-38402613-C-T		not specified	Uncertain significance (Dec 01, 2022)
8-38404420-G-A		not specified	Uncertain significance (Nov 02, 2023)
8-38404447-C-T		not specified	Uncertain significance (Jun 23, 2023)
8-38404715-T-C			Benign (Oct 29, 2020)
8-38406965-T-C		not specified	Likely benign (Dec 09, 2023)
8-38406970-G-C		not specified	Uncertain significance (Feb 11, 2022)
8-38407375-T-C		not specified	Uncertain significance (Nov 13, 2023)
8-38407420-C-A		not specified	Uncertain significance (Oct 02, 2023)
8-38411183-T-C		Hypogonadotropic hypogonadism 2 with or without anosmia • Trigonocephaly 1 • Osteoglophonic dysplasia • Craniosynostosis syndrome	Uncertain significance (Jan 12, 2018)
8-38411194-G-A		Hypogonadotropic hypogonadism 2 with or without anosmia • Trigonocephaly 1 • Craniosynostosis syndrome • Osteoglophonic dysplasia	Benign (Jan 13, 2018)
8-38411220-G-A		Trigonocephaly 1 • Osteoglophonic dysplasia • Hypogonadotropic hypogonadism 2 with or without anosmia • Craniosynostosis syndrome	Uncertain significance (Jan 13, 2018)
8-38411221-G-A		Trigonocephaly 1 • Osteoglophonic dysplasia • Hypogonadotropic hypogonadism 2 with or without anosmia • Craniosynostosis syndrome	Uncertain significance (Jan 13, 2018)
8-38411237-T-C		Craniosynostosis syndrome • Osteoglophonic dysplasia • Trigonocephaly 1 • Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Jan 13, 2018)
8-38411440-A-G		Hypogonadotropic hypogonadism 2 with or without anosmia • Osteoglophonic dysplasia • Trigonocephaly 1 • Craniosynostosis syndrome	Benign/Likely benign (Oct 09, 2021)
8-38411523-GT-G		Hypogonadism with anosmia • Osteoglophonic dysplasia • Interfrontal craniofaciosynostosis • Craniosynostosis syndrome • Pfeiffer syndrome	Likely benign (Jun 14, 2016)
8-38411529-A-C		Craniosynostosis syndrome • Trigonocephaly 1 • Osteoglophonic dysplasia • Hypogonadotropic hypogonadism 2 with or without anosmia	Benign (Jan 12, 2018)
8-38411571-G-A		Craniosynostosis syndrome • Osteoglophonic dysplasia • Trigonocephaly 1 • Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (Jan 12, 2018)
8-38411646-T-G		Osteoglophonic dysplasia • Trigonocephaly 1 • Hypogonadotropic hypogonadism 2 with or without anosmia • Craniosynostosis syndrome	Conflicting classifications of pathogenicity (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGFR1	protein_coding	protein_coding	ENST00000425967	18	57697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000161	125709	0	28	125737	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.49	348	505	0.689	0.0000318	5554
Missense in Polyphen		93	224.29	0.41464		2468
Synonymous	-1.40	237	211	1.12	0.0000140	1699
Loss of Function	5.48	4	42.5	0.0940	0.00000234	490

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00	0.00
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.0000550	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000556	0.000555
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation. {ECO:0000250|UniProtKB:P16092, ECO:0000269|PubMed:10830168, ECO:0000269|PubMed:11353842, ECO:0000269|PubMed:12181353, ECO:0000269|PubMed:1379697, ECO:0000269|PubMed:1379698, ECO:0000269|PubMed:15117958, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18480409, ECO:0000269|PubMed:19224897, ECO:0000269|PubMed:19261810, ECO:0000269|PubMed:19665973, ECO:0000269|PubMed:20133753, ECO:0000269|PubMed:20139426, ECO:0000269|PubMed:21765395, ECO:0000269|PubMed:8622701, ECO:0000269|PubMed:8663044}.
• Disease: DISEASE: Pfeiffer syndrome (PS) [MIM:101600]: A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). {ECO:0000269|PubMed:7874169}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:12627230, ECO:0000269|PubMed:15001591, ECO:0000269|PubMed:15605412, ECO:0000269|PubMed:15845591, ECO:0000269|PubMed:16606836, ECO:0000269|PubMed:16757108, ECO:0000269|PubMed:16764984, ECO:0000269|PubMed:16882753, ECO:0000269|PubMed:17154279, ECO:0000269|PubMed:19820032, ECO:0000269|PubMed:21700882, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900, ECO:0000269|PubMed:26277103}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGFR1 also have a mutation other HH-associated genes including DUSP6, FGF8, FGF17, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.; DISEASE: Osteoglophonic dysplasia (OGD) [MIM:166250]: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. {ECO:0000269|PubMed:15625620, ECO:0000269|PubMed:16470795}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hartsfield syndrome (HRTFDS) [MIM:615465]: A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur. {ECO:0000269|PubMed:23812909, ECO:0000269|PubMed:24888332}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Trigonocephaly 1 (TRIGNO1) [MIM:190440]: A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. {ECO:0000269|PubMed:11173846}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Translocation t(8;13)(p11;q12) with ZMYM2. SCLL usually presents as lymphoblastic lymphoma in association with a myeloproliferative disorder, often accompanied by pronounced peripheral eosinophilia and/or prominent eosinophilic infiltrates in the affected bone marrow. {ECO:0000269|PubMed:9716603}.; DISEASE: Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1OP. Insertion ins(12;8)(p11;p11p22) with FGFR1OP2. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP2-FGFR1, FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity. {ECO:0000269|PubMed:10688839, ECO:0000269|PubMed:15034873, ECO:0000269|PubMed:16946300, ECO:0000269|PubMed:17389761, ECO:0000269|PubMed:9949182}.; DISEASE: Note=A chromosomal aberration involving FGFR1 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with CNTRL. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CNTRL-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.; DISEASE: Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001]: A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. {ECO:0000269|PubMed:19224897, ECO:0000269|PubMed:26942290}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Jackson-Weiss syndrome (JWS) [MIM:123150]: An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. {ECO:0000269|PubMed:10861678}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Adherens junction - Homo sapiens (human);Melanoma - Homo sapiens (human);Breast cancer - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Angiogenesis overview;Neural Crest Differentiation;Signaling Pathways in Glioblastoma;Hair Follicle Development- Induction (Part 1 of 3);Mesodermal Commitment Pathway;MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Prion disease pathway;Endometrial cancer;PI3K-Akt Signaling Pathway;Ras Signaling;Endochondral Ossification;Regulation of Actin Cytoskeleton;Developmental Biology;Disease;Signal Transduction;Signaling by FGFR;PI3K Cascade;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;FGF;Fibroblast growth factor-1;IL-7 signaling;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;JAK STAT pathway and regulation;NCAM signaling for neurite out-growth;Posttranslational regulation of adherens junction stability and dissassembly;EPO signaling;Signal transduction by L1;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;L1CAM interactions;Axon guidance;Signaling by FGFR in disease;Constitutive Signaling by Aberrant PI3K in Cancer;Signaling by plasma membrane FGFR1 fusions;PI3K/AKT Signaling in Cancer;IRS-related events triggered by IGF1R;IGF1R signaling cascade;Signaling by FGFR1 amplification mutants;Signaling by activated point mutants of FGFR1;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;Signaling by Receptor Tyrosine Kinases;VEGF;Intracellular signaling by second messengers;Phospholipase C-mediated cascade: FGFR1;Diseases of signal transduction;Glypican 1 network;N-cadherin signaling events;Syndecan-1-mediated signaling events;FGFR1b ligand binding and activation;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Syndecan-4-mediated signaling events;FGFR1c ligand binding and activation;FGF signaling pathway;FGFR1c and Klotho ligand binding and activation;FGFR1 ligand binding and activation;Syndecan-2-mediated signaling events;Syndecan-3-mediated signaling events;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;PI-3K cascade:FGFR1;Negative regulation of FGFR1 signaling;Signaling by FGFR1 (Consensus)

Recessive Scores

• pRec: 0.786

Intolerance Scores

• loftool: 0.00524
• rvis_EVS: -1.35
• rvis_percentile_EVS: 4.58

Haploinsufficiency Scores

• pHI: 0.996
• hipred: Y
• hipred_score: 0.792
• ghis: 0.624

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.933

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fgfr1
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); craniofacial phenotype; muscle phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; vision/eye phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; limbs/digits/tail phenotype; skeleton phenotype; renal/urinary system phenotype

Zebrafish Information Network

• Gene name: fgfr1a
• Affected structure: olfactory bulb glomerulus
• Phenotype tag: abnormal
• Phenotype quality: malformed

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;MAPK cascade;skeletal system development;ureteric bud development;in utero embryonic development;organ induction;neuron migration;positive regulation of mesenchymal cell proliferation;chondrocyte differentiation;protein phosphorylation;transmembrane receptor protein tyrosine kinase signaling pathway;nervous system development;sensory perception of sound;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;positive regulation of phospholipase activity;positive regulation of phospholipase C activity;regulation of phosphate transport;positive regulation of neuron projection development;positive regulation of phosphatidylinositol 3-kinase signaling;cell migration;peptidyl-tyrosine phosphorylation;ventricular zone neuroblast division;embryonic limb morphogenesis;midbrain 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 blood vessel endothelial cell migration;regulation of cell differentiation;positive regulation of cell differentiation;positive regulation of neuron differentiation;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;positive regulation of protein kinase B signaling;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;positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway;negative regulation of fibroblast growth factor production;positive regulation of mitotic cell cycle DNA replication;positive regulation of vascular endothelial cell proliferation;positive regulation of endothelial cell chemotaxis to fibroblast growth factor;positive regulation of parathyroid hormone secretion;regulation of extrinsic apoptotic signaling pathway in absence of ligand
• Cellular component: extracellular region;nucleolus;cytosol;plasma membrane;integral component of plasma membrane;integral component of membrane;cytoplasmic vesicle;receptor complex
• Molecular function: protein tyrosine kinase activity;transmembrane receptor 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;SH2 domain binding;identical protein binding;protein homodimerization activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;receptor-receptor interaction