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FKBPL

Synonyms
DIR1, FKBP4, NG7, WISP39
External resources
Summary
The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle.

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
16
Likely pathogenic
0
VUS
945
Likely benign
14
Benign
0

Patient Phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on FKBPL gene are displayed below. The following symptoms were found in patients with a variant in FKBPL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
31.3%
Abnormality of head or neck
18.8%
Abnormality of metabolism homeostasis
18.8%
Abnormality of the eye
18.8%
Abnormality of the genitourinary system
18.8%
Abnormality of the musculoskeletal system
18.8%
Abnormality of the ear
12.5%
Abnormality of the immune system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
6.3%
Abnormality of blood and blood forming tissues
6.3%
Abnormality of limbs
6.3%
Abnormality of prenatal development or birth
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the integument
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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