INO80C

Chr 18

INO80 complex subunit C

Also known as: C18orf37, IES6, hIes6

NCBI Gene: 125476ENSG00000153391UniProt: Q6PI98

INO80C encodes a core component of the INO80 chromatin remodeling complex that regulates gene transcription, DNA replication, and DNA repair. The gene shows low constraint against loss-of-function variants (pLI 0.0004, LOEUF 1.416), suggesting that complete loss of function may be tolerated. Currently, no established human genetic disorders have been definitively linked to INO80C mutations in the medical literature.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
45
P/LP submissions
0%
P/LP missense
1.42
LOEUF
LOF
Mechanism· predicted
Clinical Summary— INO80C
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
43 unique Pathogenic / Likely Pathogenic· 40 VUS of 98 total submissions
Explore recent and relevant literature in Research Assistant →

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 0.74
OE 0.72 (0.40–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.10Z-score
OE missense 1.03 (0.89–1.19)
122 obs / 118.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.72 (0.40–1.42)
0≤0.351.4
Missense OE1.03 (0.89–1.19)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 6 / 8.3Missense obs/exp: 122 / 118.8Syn Z: -0.13
DN
0.5771th %ile
GOF
0.3293th %ile
LOF
0.66top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

98 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic3
VUS40
Likely Benign4
Benign2
40
Pathogenic
3
Likely Pathogenic
40
VUS
4
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
40
0
40
Likely Pathogenic
0
0
3
0
3
VUS
0
38
2
0
40
Likely Benign
0
2
1
1
4
Benign
0
0
1
1
2
Total04047289

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

View in ClinVar →

Protein Context — Lollipop Plot

INO80C · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 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