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Gene: DESI1


DESI1
desumoylating isopeptidase 1
Number of variants
(Including filtered: 223)
Number of CNVs
(Including filtered: )
OMIM
DESI1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 27.3 24 z = 0.39
Missense 55.9 38 z = 1.17
LoF 8.5 3 pLI = 0.09
CNV 3.4 3 z = 0.08

Gene summary

(canonical transcript: ENST00000263256)

Mean coverage


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