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NOB1

Synonyms
ART-4, MST158, MSTP158, NOB1P, PSMD8BP1
External resources
Summary
In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009

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
14
Likely pathogenic
0
VUS
2,949
Likely benign
4,150
Benign
0

Patient Phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on NOB1 gene are displayed below. The following symptoms were found in patients with a variant in NOB1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the eye
27.3%
Abnormality of the musculoskeletal system
27.3%
Neoplasm
27.3%
Abnormality of the digestive system
18.2%
Abnormality of the ear
18.2%
Abnormal cellular phenotype
9.1%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of head or neck
9.1%
Abnormality of limbs
9.1%
Abnormality of metabolism homeostasis
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the respiratory system
9.1%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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