C21ORF140

Chr 21

chromosome 21 open reading frame 140

Also known as: FAM243A

NCBI Gene: 101928147ENSG00000222018UniProt: B9A014

ResearchGenerating clinical summary…
LOEUF 1.24
Clinical Summary— C21ORF140
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Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.010
Z-score 1.15
OE 0.54 (0.27–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.29Z-score
OE missense 0.69 (0.58–0.82)
92 obs / 134.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.27–1.24)
0≤0.351.4
Missense OE?0.69 (0.58–0.82)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 4 / 7.4Missense obs/exp: 92 / 134.1Syn Z: 1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C21ORF140 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients