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FOSL1

Synonyms
FRA, FRA1, fra-1
External resources
Summary
The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms 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
93
Likely pathogenic
0
VUS
938
Likely benign
59
Benign
0

Patient phenotypes

Proportions of phenotypes among 91 patients carring pathogenic or likely pathogenic variants on FOSL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.8%
Abnormality of head or neck
26.4%
Abnormality of the musculoskeletal system
25.3%
Abnormality of the eye
22%
Abnormality of the integument
19.8%
Abnormality of the immune system
12.1%
Growth abnormality
12.1%
Abnormality of limbs
11%
Abnormality of the digestive system
11%
Abnormality of the ear
11%
Abnormality of blood and blood-forming tissues
9.9%
Abnormality of the cardiovascular system
5.5%
Abnormality of the genitourinary system
5.5%
Abnormality of the respiratory system
4.4%
Abnormality of prenatal development or birth
2.2%
Neoplasm
2.2%
Abnormality of the endocrine system
1.1%
Abnormality of the voice
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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