INO80C

protein-coding

INO80 complex subunit C, the group of INO80 complex

Gene summary

Involved in several processes, including positive regulation of DNA-templated transcription; regulation of DNA metabolic process; and regulation of chromosome organization. Located in fibrillar center and nucleoplasm. Part of Ino80 complex and MLL1 complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C18orf37

MANE transcript

NM_194281.4

Inheritance

—

ClinVar variants

U:41B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr18:35,452,230-35,497,979

External References & Databases

Ensembl (ENSG00000153391)

Transcript & Mutation Effects

hg38 • Region Span ~45.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to INO80C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 41

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_194281.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar	1 clinvar	3
missense			40 clinvar	2 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	3	1	45

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_194281.4	RefSeq	NP_919257.2	5	MANE Select
ENST00000334598.12	Ensembl	ENSP00000334473.6	5	MANE Select
NM_001098817.2	RefSeq	NP_001092287.1	7	Standard
NM_001308064.2	RefSeq	NP_001294993.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

DNA Repair
Post-translational protein modification
Metabolism of proteins
UCH proteinases
Deubiquitination

Biological Process

DNA repair
DNA recombination
chromatin remodeling
biological_process
protein deubiquitination

Molecular Function

molecular_function

Cellular Component

fibrillar center
nucleoplasm
Ino80 complex
MLL1 complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000441607
Coding exons: 7
Length: 45762
Individuals with no LoFs: 125725
Homozygous LoFs: 0
Heterozygous LoFs: 23
Defined: 125748
p: 0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.104	122	119	1.03	0.00000634	1468
Missense (PolyPhen)		28	34.352	0.81508		420
Synonymous	-0.133	50	48.8	1.02	0.00000293	452
Loss of Function	0.740	6	8.30	0.723	3.49e-7	128

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000098	0.000098	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.;

Recessive Scores

pRec: 0.0871

Intolerance Scores

LoFtool: 0.318
RVIS EVS: 0.15
RVIS percentile EVS: 64.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.838

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium