C9ORF43
Chr 9chromosome 9 open reading frame 43
Clinical Summary— C9ORF43
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
28 Pathogenic / Likely Pathogenic· 7 VUS of 36 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
1.05LOEUF
pLI 0.000
Z-score 1.33
OE 0.73 (0.51–1.05)
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.
0.17Z-score
OE missense 0.97 (0.87–1.08)
243 obs / 250.7 exp
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.0.73 (0.51–1.05)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.87–1.08)
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.1.10
0≤1.21.6
LoF obs/exp: 20 / 27.5Missense obs/exp: 243 / 250.7Syn Z: -0.76
ClinVar Variant Classifications
36 submitted variants in ClinVar
Classification Summary
Pathogenic25
Likely Pathogenic3
VUS7
Likely Benign1
25
Pathogenic
3
Likely Pathogenic
7
VUS
1
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 25 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 7 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 36 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C9ORF43 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of novel and rare variants associated with handgrip strength using whole genome sequence data from the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program
Sarnowski C et al.·PLoS One
2021
A composite strategy of genome-wide association study and copy number variation analysis for carcass traits in a Duroc pig population
Ding R et al.·BMC Genomics
2022
A machine learning approach to brain epigenetic analysis reveals kinases associated with Alzheimer's disease
Huang Y et al.·Nat Commun
2021
CLIC3 emerges as a novel prognostic biomarker and therapeutic target in triple-negative breast cancer through integrated multi-omics analysis
Yuan S et al.·BMC Cancer
2025
Dichlorvos-induced formation of isopeptide crosslinks between proteins in SH-SY5Y cells
Schopfer LM et al.·Anal Biochem
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.
Takaoka K et al.·Leukemia
2019
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools