C9ORF153

Chr 9

chromosome 9 open reading frame 153

Also known as: bA507D14.1

I cannot provide a clinical gene summary for C9ORF153 as no information about the protein's function, associated diseases, inheritance patterns, or pathogenic mechanisms was provided in the data. The gene appears to be tolerant of loss-of-function variants based on the low pLI score and high LOEUF value, but this alone is insufficient to generate a meaningful clinical summary for child neurologists.

LOEUF 1.83
Clinical SummaryC9ORF153
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
1.83LOEUF
pLI 0.008
Z-score 0.14
OE 0.92 (0.401.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.20Z-score
OE missense 0.92 (0.721.18)
45 obs / 48.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.92 (0.401.83)
00.351.4
Missense OE0.92 (0.721.18)
00.61.4
Synonymous OE0.77
01.21.6
LoF obs/exp: 3 / 3.3Missense obs/exp: 45 / 48.9Syn Z: 0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C9ORF153 · 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
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found