ISOC1

Chr 5

isochorismatase domain containing 1

Also known as: CGI-111

NCBI Gene: 51015ENSG00000066583UniProt: Q96CN7

Predicted to be located in peroxisome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
15
Pathogenic / LP
72
ClinVar variants
5
Pubs (1 yr)
0.3
Missense Z
1.42
LOEUF
Clinical Summary— ISOC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 55 VUS of 72 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.42LOEUF
pLI 0.000
Z-score 0.42
OE 0.88 (0.56–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.31Z-score
OE missense 0.93 (0.82–1.06)
157 obs / 168.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.88 (0.56–1.42)
0≤0.351.4
Missense OE0.93 (0.82–1.06)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 12 / 13.7Missense obs/exp: 157 / 168.2Syn Z: -0.06

ClinVar Variant Classifications

72 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS55
Likely Benign2
14
Pathogenic
1
Likely Pathogenic
55
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
1
0
1
VUS
0
49
6
0
55
Likely Benign
0
1
1
0
2
Benign
0
0
0
0
0
Total05022072

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ISOC1 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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