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Gene: UBA52


UBA52
ubiquitin A-52 residue ribosomal protein fusion product 1
Number of variants
(Including filtered: 248)
Number of CNVs
(Including filtered: )
OMIM
UBA52
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 16.6 18 z = -0.21
Missense 53.5 16 z = 2.51
LoF 5.3 1 pLI = 0.45
CNV 2.6 0 z = 0.62

Gene summary

(canonical transcript: ENST00000442744)

Mean coverage


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