C9ORF57

Chr 9

chromosome 9 open reading frame 57

The C9ORF57 protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq
LOEUF 1.75
Clinical SummaryC9ORF57
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
39 unique Pathogenic / Likely Pathogenic· 7 VUS of 46 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.75LOEUF
pLI 0.000
Z-score 0.08
OE 0.97 (0.521.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.39Z-score
OE missense 0.88 (0.721.07)
72 obs / 82.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.97 (0.521.75)
00.351.4
Missense OE0.88 (0.721.07)
00.61.4
Synonymous OE0.57
01.21.6
LoF obs/exp: 6 / 6.2Missense obs/exp: 72 / 82.0Syn Z: 1.80

ClinVar Variant Classifications

46 submitted variants in ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic6
VUS7
33
Pathogenic
6
Likely Pathogenic
7
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
33
Likely Pathogenic
6
VUS
7
Likely Benign
0
Benign
0
Total46

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C9ORF57 · 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