IL27RA

interleukin 27 receptor subunit alpha, the group of Interleukin receptors|Fibronectin type III domain containing

Basic information

Region (hg38): 19:14031761-14053218

Links

ENSG00000104998 ∙ NCBI:9466 ∙ OMIM:605350 ∙ HGNC:17290 ∙ Uniprot:Q6UWB1 ∙ 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 IL27RA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL27RA 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	4
missense			39	6	1	46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	39	8	4

Variants in IL27RA

This is a list of pathogenic ClinVar variants found in the IL27RA region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14031889-G-C		not specified	Likely benign (Oct 29, 2021)
19-14031895-C-G		not specified	Uncertain significance (Jan 24, 2024)
19-14031912-C-A		not specified	Uncertain significance (Dec 02, 2022)
19-14031948-C-G		not specified	Uncertain significance (Nov 30, 2022)
19-14032395-G-T		not specified	Uncertain significance (Apr 07, 2023)
19-14032427-G-A		not specified	Uncertain significance (Jul 14, 2022)
19-14039545-G-A		not specified	Uncertain significance (Dec 01, 2022)
19-14039558-T-C		not specified	Uncertain significance (Aug 21, 2023)
19-14039577-G-C		not specified	Uncertain significance (Apr 22, 2022)
19-14039578-C-T		not specified	Likely benign (Apr 22, 2022)
19-14039615-A-G		not specified	Uncertain significance (Feb 13, 2024)
19-14039626-C-T		not specified	Uncertain significance (Oct 24, 2023)
19-14039631-C-G			Likely benign (Jul 01, 2022)
19-14039647-G-A		not specified	Uncertain significance (Dec 13, 2023)
19-14039658-A-C		not specified	Uncertain significance (Aug 02, 2021)
19-14039777-G-T		not specified	Uncertain significance (Feb 01, 2023)
19-14039813-A-T		not specified	Uncertain significance (Aug 09, 2021)
19-14042460-C-T			Benign (Dec 31, 2019)
19-14042491-T-G			Likely benign (May 25, 2018)
19-14042543-C-T		not specified	Uncertain significance (Dec 16, 2022)
19-14042573-G-A		not specified	Uncertain significance (Oct 02, 2023)
19-14042604-C-T		not specified	Likely benign (Dec 03, 2021)
19-14042749-G-C		not specified	Uncertain significance (Dec 01, 2022)
19-14046209-G-A		not specified	Uncertain significance (Jul 26, 2022)
19-14046213-G-T		not specified	Uncertain significance (May 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL27RA	protein_coding	protein_coding	ENST00000263379	14	21184

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.90e-12	0.917	125629	0	119	125748	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	310	371	0.836	0.0000209	4022
Missense in Polyphen		41	72.644	0.5644		899
Synonymous	1.14	139	157	0.885	0.00000941	1357
Loss of Function	2.03	24	37.4	0.642	0.00000199	360

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000623	0.000623
Ashkenazi Jewish	0.00516	0.00467
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000349	0.000334
Middle Eastern	0.000272	0.000272
South Asian	0.000308	0.000294
Other	0.000353	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for IL27. Requires IL6ST/gp130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1- type immune responses. Also appears to be involved in innate defense mechanisms. {ECO:0000269|PubMed:14764690}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);JAK-STAT-Core;Interleukin-12 family signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;Interleukin-27 signaling;IL27-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.194

Intolerance Scores

• loftool: 0.873
• rvis_EVS: -0.09
• rvis_percentile_EVS: 47.12

Haploinsufficiency Scores

• pHI: 0.0926
• hipred: N
• hipred_score: 0.488
• ghis: 0.585

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.904

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il27ra
• Phenotype: homeostasis/metabolism phenotype; digestive/alimentary 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); hematopoietic system phenotype; liver/biliary system phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype

Gene ontology

• Biological process: positive regulation of T-helper 1 type immune response;negative regulation of type 2 immune response;immune response;cell surface receptor signaling pathway;positive regulation of interferon-gamma production;regulation of isotype switching to IgG isotypes;defense response to Gram-positive bacterium;interleukin-27-mediated signaling pathway;interleukin-35-mediated signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;receptor complex
• Molecular function: transmembrane signaling receptor activity;cytokine receptor activity;cytokine binding;interleukin-27 receptor activity