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KNOP1

Synonyms
101F10.1, C16orf88, FAM191A, TSG118
External resources
Summary
The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development.

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
15
Likely pathogenic
0
VUS
2,461
Likely benign
97
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on KNOP1 gene are displayed below. The following symptoms were found in patients with a variant in KNOP1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
28.6%
Abnormality of the cardiovascular system
28.6%
Abnormality of the ear
28.6%
Abnormality of the immune system
28.6%
Abnormality of the nervous system
28.6%
Abnormality of the digestive system
21.4%
Abnormality of the eye
21.4%
Abnormality of the integument
21.4%
Abnormality of the musculoskeletal system
21.4%
Abnormality of limbs
14.3%
Abnormality of metabolism homeostasis
14.3%
Abnormality of the genitourinary system
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
7.1%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of the breast
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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