OASL
protein-coding2'-5'-oligoadenylate synthetase like, the group of 2'-5'-oligoadenylate synthetase family
Gene summary
Enables DNA binding activity and double-stranded RNA binding activity. Involved in several processes, including interleukin-27-mediated signaling pathway; negative regulation of viral genome replication; and positive regulation of RIG-I signaling pathway. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~21.5 kbGenCC 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 OASL variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003733.4. 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 | 6 | 6 | ||||
| missense | 67 | 6 | 73 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 67 | 12 | 0 | 79 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003724.1 | 6 | MANE Select | |
| Ensembl | ENSP00000257570.4 | 6 | MANE Select | |
| RefSeq | NP_001248754.1 | 4 | Standard | |
| RefSeq | NP_001382347.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Human papillomavirus infection - Homo sapiens (human)
- Cytokine Signaling in Immune system
- Immune System
- Interferon gamma signaling
- Interferon alpha/beta signaling
Biological Process
- response to virus
- negative regulation of viral genome replication
- defense response to virus
- interferon-gamma-mediated signaling pathway
- type I interferon signaling pathway
Molecular Function
- 2'-5'-oligoadenylate synthetase activity
- DNA binding
- RNA binding
- double-stranded RNA binding
- ATP binding
Cellular Component
- nucleus
- nucleoplasm
- nucleolus
- cytoplasm
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000257570
- Coding exons
- 6
- Length
- 18951
- Individuals with no LoFs
- 125628
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 120
- Defined
- 125748
- p
- 0.000477
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0699 | 285 | 288 | 0.988 | 0.0000158 | 3378 |
| Missense (PolyPhen) | 71 | 76.706 | 0.92562 | 954 | ||
| Synonymous | 0.627 | 113 | 122 | 0.928 | 0.00000728 | 1013 |
| Loss of Function | -0.0992 | 16 | 15.6 | 1.03 | 6.73e-7 | 178 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00055 | rare |
| Latino/Admixed American | 0.00017 | 0.00017 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00082 | 0.00082 | rare |
| Finnish | 0.000047 | 0.000046 | rare |
| European (Non-Finnish) | 0.00072 | 0.00071 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00049 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Does not have 2'-5'-OAS activity, but can bind double- stranded RNA. Displays antiviral activity against encephalomyocarditis virus (EMCV) and hepatitis C virus (HCV) via an alternative antiviral pathway independent of RNase L. {ECO:0000269|PubMed:18931074, ECO:0000269|PubMed:20074559, ECO:0000269|PubMed:9826176}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- LoFtool
- 0.977
- RVIS EVS
- -0.4
- RVIS percentile EVS
- 26.93
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0000192
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |