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MSLN

Synonyms
MPF, SMRP
External resources
Summary
This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

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
29
Likely pathogenic
0
VUS
30,431
Likely benign
1,832
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on MSLN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
48.3%
Abnormality of the nervous system
44.8%
Abnormality of the eye
41.4%
Abnormality of head or neck
34.5%
Abnormality of limbs
27.6%
Abnormality of the integument
27.6%
Abnormality of the cardiovascular system
17.2%
Abnormality of the digestive system
17.2%
Growth abnormality
17.2%
Abnormality of the ear
13.8%
Abnormality of the immune system
10.3%
Abnormality of the genitourinary system
6.9%
Abnormality of the respiratory system
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the endocrine system
3.4%
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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