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FSIP2

Synonyms
SPGF34
External resources
Summary
This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X.

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
132
Likely pathogenic
2
VUS
11,180
Likely benign
11,824
Benign
64

Patient phenotypes

Proportions of phenotypes among 128 patients carrying pathogenic or likely pathogenic variants on FSIP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.1%
Abnormality of the musculoskeletal system
32.8%
Abnormality of the eye
19.5%
Abnormality of head or neck
18%
Abnormality of the cardiovascular system
17.2%
Abnormality of the integument
12.5%
Abnormality of the ear
11.7%
Growth abnormality
10.9%
Abnormality of limbs
10.2%
Abnormality of the digestive system
8.6%
Abnormality of the genitourinary system
8.6%
Abnormality of blood and blood-forming tissues
3.9%
Abnormality of the immune system
3.9%
Abnormality of the respiratory system
2.3%
Abnormality of prenatal development or birth
1.6%
Abnormality of the endocrine system
1.6%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Constitutional symptom
0.8%
Neoplasm
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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