INO80

Chr 15

INO80 complex ATPase subunit

Also known as: INO80A, INOC1

NCBI Gene: 54617 ENSG00000128908 UniProt: Q9ULG1 OMIM: 610169

This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene–disease validity (ClinGen)

Disputed · immunodeficiency, common variable, 1 · AR · ClinGen 2021

evidence questions this relationship

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

—

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in INO80?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

1,519 rare PASS variants

Rare truncating (LoF)

1 in 8,200

41 rare PASS variants

Rare synonymous (reference)

1 in 72

771 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for INO80. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 55	1 in 11,000
South Asian	~43k	1 in 48	1 in 4,300
Remaining (unassigned)	~30k	1 in 40	≈ 1 in 30,000
European (Finnish)	~27k	1 in 120	1 in 5,300
Admixed American	~22k	1 in 39	≈ 1 in 4,900
African / African American	~21k	1 in 39	≈ 1 in 9,300
East Asian	~20k	1 in 61	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 150	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 52	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 29 of 35 coding exons well covered in gnomAD exomes; exons 8, 14, 15, 23, 28, 29 marginal. Genomes: all 35.? see exons ↓