FGF19
fibroblast growth factor 19, the group of Fibroblast growth factor family
Basic information
Region (hg38): 11:69698237-69704022
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 FGF19 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 | 0 | |||||
| missense | 10 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 1 | 0 |
Variants in FGF19
This is a list of pathogenic ClinVar variants found in the FGF19 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-69699266-T-G | not specified | Uncertain significance (Apr 01, 2024) | ||
| 11-69699300-C-G | not specified | Uncertain significance (Jun 22, 2023) | ||
| 11-69699300-C-T | not specified | Uncertain significance (Oct 05, 2021) | ||
| 11-69699333-T-C | not specified | Uncertain significance (Oct 27, 2023) | ||
| 11-69699363-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
| 11-69699378-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 11-69699494-C-T | not specified | Likely benign (Jan 26, 2022) | ||
| 11-69699546-C-T | not specified | Uncertain significance (Jun 21, 2023) | ||
| 11-69699566-G-C | not specified | Uncertain significance (Nov 21, 2022) | ||
| 11-69703344-C-T | not specified | Uncertain significance (May 15, 2023) | ||
| 11-69703758-T-C | not specified | Uncertain significance (Feb 02, 2022) | ||
| 11-69703788-G-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 11-69703804-G-A | not specified | Uncertain significance (Jun 13, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FGF19 | protein_coding | protein_coding | ENST00000294312 | 3 | 6411 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.570 | 0.387 | 122385 | 0 | 1 | 122386 | 0.00000409 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.927 | 63 | 87.4 | 0.721 | 0.00000493 | 1396 |
| Missense in Polyphen | 14 | 25.785 | 0.54294 | 461 | ||
| Synonymous | 0.572 | 34 | 38.5 | 0.883 | 0.00000233 | 452 |
| Loss of Function | 1.49 | 0 | 2.58 | 0.00 | 1.09e-7 | 57 |
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) | 0.00000904 | 0.00000904 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4. {ECO:0000269|PubMed:12815072, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:19085950}.;
- 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);Neural Crest Differentiation;Farnesoid X Receptor Pathway;Nuclear Receptors Meta-Pathway;MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Regulation of Actin Cytoskeleton;PI-3K cascade:FGFR4;Disease;betaKlotho-mediated ligand binding;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;PI3K Cascade;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;FGF;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;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;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;Syndecan-1-mediated signaling events;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);FGF signaling pathway;Syndecan-2-mediated signaling events;Syndecan-3-mediated signaling events;Phospholipase C-mediated cascade; FGFR4
(Consensus)
Recessive Scores
- pRec
- 0.158
Haploinsufficiency Scores
- pHI
- 0.328
- hipred
- Y
- hipred_score
- 0.638
- ghis
- 0.420
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.411
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fgf15
- 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); embryo phenotype; 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); 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); 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); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- fgf19
- Affected structure
- optic fissure
- Phenotype tag
- abnormal
- Phenotype quality
- closure incomplete
Gene ontology
- Biological process
- MAPK cascade;positive regulation of protein phosphorylation;nervous system development;positive regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;regulation of signaling receptor activity;negative regulation of gene expression;phosphatidylinositol-3-phosphate biosynthetic process;positive regulation of glucose import;positive regulation of JNK cascade;phosphatidylinositol phosphorylation;positive regulation of protein kinase B signaling;positive regulation of ERK1 and ERK2 cascade;negative regulation of bile acid biosynthetic process
- Cellular component
- extracellular region
- Molecular function
- Ras guanyl-nucleotide exchange factor activity;fibroblast growth factor receptor binding;protein binding;growth factor activity;1-phosphatidylinositol-3-kinase activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity