C16ORF86

Chr 16

chromosome 16 open reading frame 86

I cannot write a clinical summary for C16ORF86 based on the provided information. The data only includes constraint scores (pLI and LOEUF values) but lacks essential clinical information such as protein function, associated diseases, inheritance patterns, and pathogenic mechanisms that are required for a meaningful clinical gene summary for child neurologists.

0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.04
LOEUF
Mechanism
Clinical SummaryC16ORF86
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.04LOEUF
pLI 0.006
Z-score 1.48
OE 0.50 (0.261.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.80Z-score
OE missense 0.83 (0.720.95)
145 obs / 174.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.50 (0.261.04)
00.351.4
Missense OE0.83 (0.720.95)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 5 / 10.1Missense obs/exp: 145 / 174.7Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C16ORF86 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found