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TMPRSS5

Synonyms
SPINESIN
External resources
Summary
This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. 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
23
Likely pathogenic
503
VUS
4,526
Likely benign
4,142
Benign
0

Patient Phenotypes

Proportions of phenotypes among 526 patients carrying pathogenic or likely pathogenic variants on TMPRSS5 gene are displayed below. The following symptoms were found in patients with a variant in TMPRSS5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.6%
Abnormality of the musculoskeletal system
20.7%
Abnormality of the cardiovascular system
18.6%
Abnormality of head or neck
17.9%
Abnormality of the ear
17.9%
Growth abnormality
12.5%
Abnormality of the eye
12.2%
Abnormality of the genitourinary system
8.4%
Abnormality of metabolism homeostasis
6.3%
Abnormality of the integument
6.3%
Abnormality of blood and blood forming tissues
5.5%
Abnormality of the digestive system
5.3%
Abnormality of limbs
4.8%
Abnormality of the immune system
4.6%
Abnormality of prenatal development or birth
3.8%
Abnormality of the endocrine system
3.2%
Abnormality of the respiratory system
2.7%
Neoplasm
2.5%
Abnormality of the breast
0.6%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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