Gene Gene information from NCBI Gene database.
Entrez ID 55074
Gene name Oxidation resistance 1
Gene symbol OXR1
Synonyms (NCBI Gene)
CHEGDDNbla00307TLDC3
Chromosome 8
Chromosome location 8q23.1
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1587174071 C>G Pathogenic, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1587174948 A>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1587302415 G>T Pathogenic, likely-pathogenic Downstream transcript variant, genic downstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
604
miRTarBase ID miRNA Experiments Reference
MIRT052140 hsa-let-7b-5p CLASH 23622248
MIRT054917 hsa-miR-200b-3p Luciferase reporter assayqRT-PCRWestern blot 23404117
MIRT223805 hsa-miR-144-3p PAR-CLIP 23592263
MIRT471693 hsa-miR-875-5p PAR-CLIP 23592263
MIRT471692 hsa-miR-586 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IBA
GO:0005730 Component Nucleolus IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 15060142
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605609 15822 ENSG00000164830
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N573
Protein name Oxidation resistance protein 1
Protein function May be involved in protection from oxidative damage.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01476 LysM 101 143 LysM domain Domain
PF07534 TLD 738 874 TLD Domain
Sequence
MTKDKNSPGLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQK
HPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVESRDSLNSIALKFDTTP
NELVQLNKLFSRAVVTGQVLYVP
DPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDV
HPTEATPSSTFTGIRPARVVSSTSEEEEAFTEKFLKINCKYITSGKGTVSGVLLVTPNNI
MFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCH
SKKMTGSNTEEIDSRIRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQ
DKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEM
AIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQK
QSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQVSQKEAKHKITSADGH
IESSALLKEKQRHRLHKFLCLRVGKPMRKTFVSQASATMQQYAQRDKKHEYWFAVPQERT
DHLYAFFIQWSPEIYAEDTGEYTREPGFIVVKKIEESETIEDSSNQAAAREWEVVSVAEY
HRRIDALNTEELRTLCRRLQITTREDINSKQVATVKADLESESFRPNLSDPSELLLPDQI
EKLTKHLPPRTIGYPWTLVYGTGKHGTSLKTLYRTMTGLDTPVLMVIKDSDGQVFGALAS
EPLKVSDGFYGTGETFVFTFCPEFEVFKWTGDNMFFIKGDMDSLAFGGGGGEFALWLDGD
LYHGRSHSCKTFGNRTLSKKEDFFIQDIEIWAFE
Sequence length 874
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital cerebellar hypoplasia Pathogenic rs1587174071, rs1587302415 RCV000993804
RCV000993803
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CEREBELLAR HYPOPLASIA CO-OCCURRENT WITH TAPETORETINAL DEGENERATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22028674, 25792726, 27036366, 31642482
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 24152222 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 37958785 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 28662726 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Restrictive Restrictive cardiomyopathy Pubtator 38212606 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 36012132 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Cerebellar diseases Pubtator 37773136 Associate
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma BEFREE 24152222
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 37773136 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 28662726
★☆☆☆☆
Found in Text Mining only