FGF18
fibroblast growth factor 18, the group of Fibroblast growth factor family
Basic information
Region (hg38): 5:171419647-171457626
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF18 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 | 1 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 1 |
Variants in FGF18
This is a list of pathogenic ClinVar variants found in the FGF18 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-171420212-C-T | not specified | Uncertain significance (Jul 20, 2022) | ||
| 5-171420442-A-G | not specified | Uncertain significance (Mar 06, 2023) | ||
| 5-171436114-G-A | not specified | Uncertain significance (Jul 14, 2022) | ||
| 5-171436128-C-G | not specified | Uncertain significance (Jun 18, 2021) | ||
| 5-171436154-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
| 5-171436181-G-A | not specified | Uncertain significance (Jan 25, 2023) | ||
| 5-171436234-C-T | Short stature • not specified | Uncertain significance (Oct 21, 2021) | ||
| 5-171436235-G-A | not specified | Uncertain significance (Apr 12, 2023) | ||
| 5-171456576-A-G | not specified | Uncertain significance (Apr 09, 2022) | ||
| 5-171456664-G-A | Benign (Jul 04, 2018) | |||
| 5-171456678-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
| 5-171456720-A-C | not specified | Uncertain significance (Jan 31, 2023) | ||
| 5-171456729-C-T | not specified | Uncertain significance (Jun 18, 2021) | ||
| 5-171456733-G-C | not specified | Uncertain significance (Apr 24, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FGF18 | protein_coding | protein_coding | ENST00000274625 | 5 | 37968 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.385 | 0.606 | 122938 | 0 | 3 | 122941 | 0.0000122 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.45 | 59 | 141 | 0.419 | 0.0000104 | 1332 |
| Missense in Polyphen | 21 | 59.162 | 0.35496 | 491 | ||
| Synonymous | -0.108 | 60 | 58.9 | 1.02 | 0.00000413 | 408 |
| Loss of Function | 2.19 | 2 | 9.16 | 0.218 | 3.88e-7 | 118 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000272 | 0.0000268 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation. {ECO:0000269|PubMed:16597617}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Melanoma - Homo sapiens (human);Breast cancer - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Endochondral Ossification;Regulation of Actin Cytoskeleton;FGFR2c ligand binding and activation;FGFR2 ligand binding and activation;FRS-mediated FGFR2 signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;FGFR3b ligand binding and activation;Phospholipase C-mediated cascade; FGFR2;FGFR3c ligand binding and activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;PI-3K cascade:FGFR2;Downstream signaling of activated FGFR2;SHC-mediated cascade:FGFR3;PI-3K cascade:FGFR4;PI-3K cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;FGFR4 ligand binding and activation;Signal Transduction;FRS-mediated FGFR4 signaling;SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;FGFR3 ligand binding and activation;FGFR3 mutant receptor activation;PI3K Cascade;IRS-mediated signalling;Insulin receptor signalling cascade;Activated point mutants of FGFR2;Signaling by Insulin receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;FGF;Signaling by FGFR2 in disease;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Signaling by activated point mutants of FGFR3;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;FGFR2 mutant receptor activation;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR3 in disease;Signaling by FGFR in disease;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K/AKT Signaling in Cancer;GPCR signaling-G alpha i;IRS-related events triggered by IGF1R;IGF1R signaling cascade;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Diseases of signal transduction;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);FGFRL1 modulation of FGFR1 signaling;Signaling by FGFR1;Phospholipase C-mediated cascade; FGFR3;Phospholipase C-mediated cascade; FGFR4
(Consensus)
Recessive Scores
- pRec
- 0.269
Intolerance Scores
- loftool
- 0.171
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.46
Haploinsufficiency Scores
- pHI
- 0.554
- hipred
- Y
- hipred_score
- 0.661
- ghis
- 0.594
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.740
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fgf18
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; craniofacial 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); respiratory system phenotype; skeleton phenotype; digestive/alimentary phenotype; limbs/digits/tail 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);
Gene ontology
- Biological process
- MAPK cascade;angiogenesis;regulation of endothelial cell proliferation;intramembranous ossification;endochondral ossification;chondrocyte development;signal transduction;cell-cell signaling;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;anatomical structure morphogenesis;regulation of signaling receptor activity;peptidyl-tyrosine phosphorylation;lung development;positive regulation of vascular endothelial growth factor receptor signaling pathway;positive regulation of chondrocyte differentiation;phosphatidylinositol-3-phosphate biosynthetic process;positive regulation of MAP kinase activity;positive regulation of blood vessel endothelial cell migration;positive regulation of angiogenesis;phosphatidylinositol phosphorylation;positive regulation of protein kinase B signaling;positive regulation of ERK1 and ERK2 cascade;regulation of sprouting angiogenesis;positive regulation of endothelial cell chemotaxis to fibroblast growth factor
- Cellular component
- extracellular region;extracellular space;nucleolus
- Molecular function
- protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;type 1 fibroblast growth factor receptor binding;type 2 fibroblast growth factor receptor binding;growth factor activity;1-phosphatidylinositol-3-kinase activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity