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CTU2

Synonyms
C16orf84, MFRG, NCS2, UPF0432
External resources
Summary
This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
38
Likely pathogenic
0
VUS
11,497
Likely benign
7,357
Benign
1,430

Patient phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on CTU2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.7%
Abnormality of the musculoskeletal system
25.7%
Abnormality of the cardiovascular system
17.1%
Abnormality of the eye
17.1%
Abnormality of head or neck
14.3%
Abnormality of limbs
11.4%
Abnormality of the ear
11.4%
Growth abnormality
11.4%
Abnormality of the integument
8.6%
Abnormality of the digestive system
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of the immune system
5.7%
Abnormal cellular phenotype
2.9%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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