C16ORF87

Chr 16

chromosome 16 open reading frame 87

NCBI Gene: 388272 ENSG00000155330 UniProt: Q6PH81

Active trials

Pathogenic / LP

ClinVar variants

Pubs (1 yr)

1.4

Missense Z

1.11

LOEUF

Clinical Summary— C16ORF87

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

1.11LOEUF

pLI 0.004

Z-score 1.35

OE 0.53 (0.28–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

1.44Z-score

OE missense 0.54 (0.42–0.69)

41 obs / 76.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.53 (0.28–1.11)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.54 (0.42–0.69)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.77

0≤1.21.6

LoF obs/exp: 5 / 9.5Missense obs/exp: 41 / 76.5Syn Z: 0.90