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SEMA4F

Synonyms
M-SEMA, PRO2353, S4F, SEMAM, SEMAW, m-Sema-M
External resources
Summary
This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants.

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
10
Likely pathogenic
0
VUS
7,710
Likely benign
108
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on SEMA4F gene are displayed below. The following symptoms were found in patients with a variant in SEMA4F. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
30%
Abnormality of the immune system
30%
Abnormality of the musculoskeletal system
30%
Abnormality of blood and blood forming tissues
20%
Abnormality of the digestive system
20%
Abnormality of the integument
20%
Growth abnormality
20%
Abnormality of limbs
10%
Abnormality of the ear
10%
Abnormality of the endocrine system
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the respiratory system
10%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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