OXR1

protein-coding

oxidation resistance 1, the group of TLDc domain containing

Gene summary

Predicted to enable oxidoreductase activity. Predicted to be involved in response to oxidative stress. Predicted to act upstream of or within several processes, including adult walking behavior; negative regulation of cellular response to oxidative stress; and negative regulation of peptidyl-cysteine S-nitrosylation. Located in mitochondrion. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay. [provided by Alliance of Genome Resources, Apr 2025]

MANE transcript

NM_001198533.2

Inheritance

ClinVar variants

P:3U:122B:22

Top phenotype

Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr8:106,270,144-106,752,694

External References & Databases

Ensembl (ENSG00000164830)

Transcript & Mutation Effects

hg38 • Region Span ~482.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

isolated cerebellar hypoplasia/agenesisMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0008939

Submitter: Ambry Genetics

isolated cerebellar hypoplasia/agenesisSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0008939

Submitter: G2P

sensorineural hearing loss disorderSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0020678

Submitter: PanelApp Australia

isolated cerebellar hypoplasia/agenesisSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0008939

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayAR

Manifestation: Craniofacial; Musculoskeletal; Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 31785787

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OXR1 variants in ClinVar

6 Conditions Cataloged

Inborn genetic diseasesTotal: 109

not providedTotal: 27

Congenital cerebellar hypoplasiaTotal: 9

not specifiedTotal: 3

OXR1-related disorderTotal: 3

Hearing impairmentTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001198533.2. 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			2 clinvar	12 clinvar	1 clinvar	15
missense		1 clinvar	112 clinvar	7 clinvar		120
nonsense	1 clinvar					1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)	1 clinvar		7 clinvar	2 clinvar		10
Total	2	1	122	21	1	147

Highest pathogenic variant AF is 0.00009574042

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001198533.2	RefSeq	NP_001185462.1	16	MANE Select
ENST00000517566.7	Ensembl	ENSP00000429205.2	16	MANE Select
NM_001198532.1	RefSeq	NP_001185461.1	16	Standard
NM_001198534.1	RefSeq	NP_001185463.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to oxidative stress
adult walking behavior
negative regulation of neuron apoptotic process
neuron apoptotic process
oxidation-reduction process

Molecular Function

molecular_function
oxidoreductase activity

Cellular Component

cellular_component
nucleoplasm
nucleolus
mitochondrion
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000442977
Coding exons: 16
Length: 482450
Individuals with no LoFs: 125728
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125740
p: 0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.02	380	440	0.864	0.0000213	5749
Missense (PolyPhen)		101	166.68	0.60596		2221
Synonymous	-0.836	165	152	1.09	0.00000778	1612
Loss of Function	5.03	9	45.7	0.197	0.00000266	547

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000065	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in protection from oxidative damage. {ECO:0000269|PubMed:11114193, ECO:0000269|PubMed:15060142}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.668
RVIS EVS: -1.09
RVIS percentile EVS: 7.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.247

Gene Damage Prediction

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