CSPG4 chondroitin sulfate proteoglycan 4

Genome build
GRCh37 / hg19
Ensembl gene ID
ENSG00000173546
References
gnomAD, Ensembl, UCSC Browser,
Other studies
ASC, BipEx, Epi25

Gene Result

ClassConsequenceCasesControlsOdds RatioCase/Control P-valueDe NovosDe Novo P-value
PTV15491.230.670
Missense (MPC ≥ 3)00
Missense (3 > MPC ≥ 2)00-

Meta-analysis P-value: 0.670

Meta-analysis Q-value: 1.00

Constraint

CategoryExp. SNVsObs. SNVsConstraint metrics
Synonymous634.9614Z = 0.65o/e = 0.97
Missense1391.71244Z = 1.41o/e = 0.89
pLoF65.921pLI = 0o/e = 0.32
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