INO80C

Chr 18

INO80 complex subunit C

Also known as: C18orf37, IES6, hIes6

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.

ResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 1.42
Clinical SummaryINO80C
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.42LOEUF
pLI 0.000
Z-score 0.74
OE 0.72 (0.401.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.10Z-score
OE missense 1.03 (0.891.19)
122 obs / 118.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.72 (0.401.42)
00.351.4
Missense OE1.03 (0.891.19)
00.61.4
Synonymous OE1.02
01.21.6
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

0 submitted variants 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

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →