C10ORF105

Chr 10

chromosome 10 open reading frame 105

The C10ORF105 protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in this gene have not been definitively associated with any recognized pediatric neurological disorders. The gene shows low constraint against loss-of-function variants (pLI 0.08, LOEUF 1.9), suggesting it may be tolerant to disruption.

ResearchSummary from RefSeq
LOEUF 1.91
Clinical SummaryC10ORF105
Population Constraint (gnomAD)
Low constraint (pLI 0.08) — 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
1.91LOEUF
pLI 0.084
Z-score -0.16
OE 1.19 (0.291.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.20Z-score
OE missense 1.07 (0.881.30)
71 obs / 66.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.19 (0.291.91)
00.351.4
Missense OE1.07 (0.881.30)
00.61.4
Synonymous OE1.40
01.21.6
LoF obs/exp: 1 / 0.8Missense obs/exp: 71 / 66.4Syn Z: -1.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C10ORF105 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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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