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HPN

Synonyms
TMPRSS1
External resources
Summary
This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
3,085
Likely benign
283
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on HPN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
25%
Abnormality of the immune system
25%
Abnormality of the musculoskeletal system
25%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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