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FGFRL1

Synonyms
FGFR-5, FGFR5, FHFR
External resources
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
51
Likely pathogenic
2,887
VUS
4,903
Likely benign
3,642
Benign
0

Patient phenotypes

Proportions of phenotypes among 2922 patients carring pathogenic or likely pathogenic variants on FGFRL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.2%
Abnormality of the musculoskeletal system
28.2%
Abnormality of the eye
27.2%
Abnormality of head or neck
20.3%
Abnormality of the ear
16.9%
Abnormality of the cardiovascular system
16.4%
Growth abnormality
11.6%
Abnormality of the integument
10%
Abnormality of limbs
9.4%
Abnormality of the genitourinary system
8.6%
Abnormality of the digestive system
6.5%
Abnormality of the immune system
5.3%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the endocrine system
3.9%
Abnormality of the respiratory system
3.1%
Abnormality of prenatal development or birth
2.8%
Neoplasm
2.2%
Constitutional symptom
1.3%
Abnormality of the breast
0.8%
Abnormality of the voice
0.5%
Abnormal cellular phenotype
0.5%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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