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TYW1B

Synonyms
LINC00069, NCRNA00069, RSAFD2
External resources
Summary
Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population.

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
76
Likely pathogenic
0
VUS
9,090
Likely benign
1,098
Benign
0

Patient phenotypes

Proportions of phenotypes among 76 patients carring pathogenic or likely pathogenic variants on TYW1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.5%
Abnormality of the eye
30.3%
Abnormality of the musculoskeletal system
23.7%
Abnormality of head or neck
21.1%
Abnormality of the cardiovascular system
13.2%
Abnormality of the genitourinary system
10.5%
Abnormality of the ear
9.2%
Abnormality of the integument
9.2%
Growth abnormality
7.9%
Abnormality of limbs
5.3%
Abnormality of prenatal development or birth
3.9%
Abnormality of the digestive system
3.9%
Abnormality of the immune system
3.9%
Abnormality of the endocrine system
2.6%
Abnormality of the respiratory system
2.6%
Abnormality of blood and blood-forming tissues
1.3%
Neoplasm
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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