OASL

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

Basic information

Region (hg38): 12:121017762-121039246

Links

ENSG00000135114 ∙ NCBI:8638 ∙ OMIM:603281 ∙ HGNC:8090 ∙ Uniprot:Q15646 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (17 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OASL gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in OASL

This is a list of pathogenic ClinVar variants found in the OASL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-121020620-C-T		not specified	Uncertain significance (Mar 14, 2023)
12-121020746-T-C		not specified	Uncertain significance (Nov 29, 2023)
12-121020794-C-T		not specified	Uncertain significance (Jun 05, 2023)
12-121020797-A-C		not specified	Uncertain significance (Apr 13, 2023)
12-121020880-C-G		not specified	Uncertain significance (Nov 03, 2022)
12-121020955-C-T		not specified	Likely benign (Nov 22, 2023)
12-121021051-C-T		not specified	Uncertain significance (Nov 08, 2022)
12-121024001-A-G		not specified	Uncertain significance (May 01, 2022)
12-121024100-C-T		not specified	Uncertain significance (Dec 13, 2023)
12-121024104-G-A		not specified	Likely benign (Mar 01, 2024)
12-121024131-G-C		not specified	Uncertain significance (May 24, 2023)
12-121024136-G-A		not specified	Uncertain significance (Sep 06, 2022)
12-121027638-C-G		not specified	Uncertain significance (Jan 09, 2024)
12-121027706-C-T		not specified	Uncertain significance (Dec 17, 2023)
12-121027736-C-G		not specified	Uncertain significance (May 27, 2022)
12-121027774-T-C		not specified	Uncertain significance (Sep 01, 2021)
12-121031467-C-T		not specified	Uncertain significance (Feb 23, 2023)
12-121031493-C-A			Likely benign (Apr 01, 2022)
12-121031561-C-A		not specified	Uncertain significance (Nov 10, 2022)
12-121031573-T-C		not specified	Uncertain significance (Jul 06, 2021)
12-121033484-A-G		not specified	Uncertain significance (Oct 12, 2021)
12-121033511-C-T		not specified	Likely benign (Sep 27, 2021)
12-121033522-G-A			Likely benign (Feb 01, 2023)
12-121033523-A-G		not specified	Uncertain significance (Aug 10, 2021)
12-121033538-G-C		not specified	Uncertain significance (May 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OASL	protein_coding	protein_coding	ENST00000257570	6	18951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.76e-11	0.0418	125628	0	120	125748	0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0699	285	288	0.988	0.0000158	3378
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000727	0.000727
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000816	0.000816
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.000715	0.000712
Middle Eastern	0.000816	0.000816
South Asian	0.000131	0.000131
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: Human papillomavirus infection - Homo sapiens (human);Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon alpha/beta signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.977
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.93

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.123
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0000192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Oasl1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; homeostasis/metabolism phenotype

Gene ontology

• 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;regulation of ribonuclease activity
• Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;cytosol;membrane
• Molecular function: 2'-5'-oligoadenylate synthetase activity;DNA binding;RNA binding;double-stranded RNA binding;ATP binding;thyroid hormone receptor binding