OAS1

2'-5'-oligoadenylate synthetase 1, the group of 2'-5'-oligoadenylate synthetase family

Basic information

Region (hg38): 12:112905856-112933219

Previous symbols: [ "OIAS" ]

Links

ENSG00000089127NCBI:4938OMIM:164350HGNC:8086Uniprot:P00973AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • pulmonary alveolar proteinosis with hypogammaglobulinemia (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaADAllergy/Immunology/Infectious; PulmonaryRecurrent infections have been described, and preventive measures and awareness allowing early diagnosis and aggressive treatmentment of infections may be beneficial; Individuals may suffer from severe and early-onset respiratory insufficiency, and early awareness may be beneficial for pulmonary management, including related to ventilatory support; HSCT has been describedAllergy/Immunology/Infectious; Pulmonary29185156; 29455859; 34145065

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OAS1 gene.

  • not_provided (298 variants)
  • not_specified (54 variants)
  • Pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia (11 variants)
  • OAS1-related_disorder (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OAS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016816.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
61
clinvar
6
clinvar
68
missense
1
clinvar
2
clinvar
128
clinvar
45
clinvar
15
clinvar
191
nonsense
5
clinvar
2
clinvar
7
start loss
2
2
frameshift
7
clinvar
2
clinvar
9
splice donor/acceptor (+/-2bp)
5
clinvar
5
Total 1 2 148 110 21
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OAS1protein_codingprotein_codingENST00000445409 625409
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00003450.9501256590891257480.000354
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4262472291.080.00001242697
Missense in Polyphen8983.7971.06211020
Synonymous1.148094.00.8510.00000524809
Loss of Function1.801018.30.5460.00000100197

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001040.00104
Ashkenazi Jewish0.00009930.0000992
East Asian0.002070.00207
Finnish0.0003700.000370
European (Non-Finnish)0.0001230.000123
Middle Eastern0.002070.00207
South Asian0.00009800.0000980
Other0.0008150.000815

dbNSFP

Source: dbNSFP

Function
FUNCTION: Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L. {ECO:0000269|PubMed:12799444, ECO:0000269|PubMed:18931074, ECO:0000269|PubMed:19923450, ECO:0000269|PubMed:23319625}.;
Pathway
Influenza A - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Measles - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);The human immune response to tuberculosis;Type II interferon signaling (IFNG);Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon alpha/beta signaling;Interferon Signaling (Consensus)

Recessive Scores

pRec
0.190

Intolerance Scores

loftool
0.979
rvis_EVS
1.31
rvis_percentile_EVS
94.04

Haploinsufficiency Scores

pHI
0.0239
hipred
N
hipred_score
0.145
ghis
0.479

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.613

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Oas1h
Phenotype

Gene ontology

Biological process
glucose metabolic process;response to virus;glucose homeostasis;negative regulation of viral genome replication;defense response to virus;interferon-gamma-mediated signaling pathway;type I interferon signaling pathway;regulation of ribonuclease activity
Cellular component
extracellular region;nucleus;nucleoplasm;cytoplasm;mitochondrion;endoplasmic reticulum;cytosol
Molecular function
2'-5'-oligoadenylate synthetase activity;double-stranded RNA binding;protein binding;ATP binding;metal ion binding