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SNUPN

Synonyms
KPNBL, RNUT1, Snurportin1
External resources
Summary
The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene.

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
18
Likely pathogenic
10
VUS
7,164
Likely benign
147
Benign
0

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on SNUPN gene are displayed below. The following symptoms were found in patients with a variant in SNUPN. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
19.2%
Abnormality of the cardiovascular system
19.2%
Abnormality of the digestive system
19.2%
Abnormality of the nervous system
19.2%
Abnormality of the genitourinary system
15.4%
Abnormality of the musculoskeletal system
15.4%
Neoplasm
15.4%
Abnormality of the integument
11.5%
Growth abnormality
11.5%
Abnormality of limbs
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the eye
7.7%
Abnormality of the immune system
7.7%
Constitutional symptom
7.7%
Abnormality of blood and blood forming tissues
3.8%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the ear
3.8%
Abnormality of the respiratory system
3.8%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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