FGF21
fibroblast growth factor 21, the group of Fibroblast growth factor family
Basic information
Region (hg38): 19:48755524-48758333
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (43 variants)
- not_provided (4 variants)
- Congenital_fibrosis_of_extraocular_muscles (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF21 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019113.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 43 | 45 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 43 | 4 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FGF21 | protein_coding | protein_coding | ENST00000593756 | 3 | 2772 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0294 | 0.818 | 125740 | 0 | 7 | 125747 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.296 | 139 | 130 | 1.07 | 0.00000818 | 1303 |
| Missense in Polyphen | 42 | 46.013 | 0.91278 | 519 | ||
| Synonymous | -0.555 | 66 | 60.5 | 1.09 | 0.00000395 | 472 |
| Loss of Function | 1.10 | 3 | 5.89 | 0.509 | 2.51e-7 | 66 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000292 | 0.0000292 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000452 | 0.0000439 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. {ECO:0000269|PubMed:15902306, ECO:0000269|PubMed:17623664}.;
- 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);Thermogenesis - 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);Sterol Regulatory Element-Binding Proteins (SREBP) signalling;Aryl Hydrocarbon Receptor;MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Plasma lipoprotein assembly, remodeling, and clearance;PI3K-Akt Signaling Pathway;Regulation of Actin Cytoskeleton;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;FGF;SLC-mediated transmembrane transport;Transport of small molecules;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Cellular hexose transport;GPCR signaling-G alpha i
(Consensus)
Recessive Scores
- pRec
- 0.135
Intolerance Scores
- loftool
- 0.183
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.56
Haploinsufficiency Scores
- pHI
- 0.0790
- hipred
- N
- hipred_score
- 0.173
- ghis
- 0.424
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.105
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fgf21
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; skeleton 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); limbs/digits/tail phenotype; normal phenotype;
Gene ontology
- Biological process
- signal transduction;cell-cell signaling;positive regulation of cell population proliferation;regulation of signaling receptor activity;positive regulation of triglyceride catabolic process;regulation of low-density lipoprotein particle clearance;response to activity;endoplasmic reticulum unfolded protein response;response to nutrient levels;cellular response to drug;positive regulation of low-density lipoprotein particle receptor biosynthetic process;positive regulation of glucose import;positive regulation of ERK1 and ERK2 cascade;cellular response to glucose stimulus;cellular response to glucagon stimulus;cellular response to low-density lipoprotein particle stimulus;endothelial cell apoptotic process;positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway;positive regulation of cold-induced thermogenesis;negative regulation of neuron death;response to methionine;negative regulation of endothelial cell apoptotic process
- Cellular component
- extracellular region;extracellular space;cell
- Molecular function
- fibroblast growth factor receptor binding;protein binding;growth factor activity