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SEMA4G

Synonyms
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External resources
Summary
Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple 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
61
Likely pathogenic
28
VUS
3,820
Likely benign
2,575
Benign
0

Patient Phenotypes

Proportions of phenotypes among 79 patients carrying pathogenic or likely pathogenic variants on SEMA4G gene are displayed below. The following symptoms were found in patients with a variant in SEMA4G. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
49.4%
Abnormality of the musculoskeletal system
31.6%
Abnormality of head or neck
26.6%
Abnormality of the ear
20.3%
Abnormality of the cardiovascular system
19%
Growth abnormality
19%
Abnormality of the genitourinary system
17.7%
Abnormality of the eye
13.9%
Abnormality of limbs
12.7%
Abnormality of metabolism homeostasis
11.4%
Abnormality of the integument
10.1%
Abnormality of prenatal development or birth
7.6%
Abnormality of the digestive system
6.3%
Abnormality of the endocrine system
6.3%
Abnormality of blood and blood forming tissues
2.5%
Abnormality of the respiratory system
2.5%
Abnormality of the immune system
1.3%
Neoplasm
1.3%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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