IL1RL1

interleukin 1 receptor like 1, the group of I-set domain containing|Interleukin receptors|TIR domain containing

Basic information

Region (hg38): 2:102311502-102352037

Links

ENSG00000115602NCBI:9173OMIM:601203HGNC:5998Uniprot:Q01638AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL1RL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL1RL1 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
4
clinvar
3
clinvar
7
missense
30
clinvar
6
clinvar
3
clinvar
39
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 30 10 6

Variants in IL1RL1

This is a list of pathogenic ClinVar variants found in the IL1RL1 region.

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

Position Type Phenotype Significance ClinVar
2-102314488-A-G Ascending aortic dissection association (Feb 01, 2021)1120032
2-102338283-G-T Likely benign (Jun 22, 2018)781683
2-102338317-C-G not specified Uncertain significance (Jun 16, 2024)3285818
2-102338909-C-A not specified Uncertain significance (May 24, 2023)2551414
2-102338916-T-C Likely benign (Dec 01, 2023)3026659
2-102338965-C-T not specified Uncertain significance (Sep 17, 2021)2299875
2-102339020-C-G not specified Uncertain significance (Dec 27, 2022)2280867
2-102340123-G-A not specified Uncertain significance (Apr 13, 2023)2516577
2-102340192-T-A not specified Uncertain significance (Oct 13, 2023)3109265
2-102340194-T-C Benign (Jun 18, 2018)767809
2-102340228-A-G not specified Uncertain significance (Oct 26, 2022)2320209
2-102340676-C-T Benign (Dec 31, 2019)769571
2-102340704-C-A not specified Uncertain significance (Jul 09, 2021)2366670
2-102340744-G-A Benign (Feb 05, 2021)1629553
2-102340747-G-A not specified Uncertain significance (May 18, 2023)2548532
2-102340784-G-T not specified Uncertain significance (Dec 07, 2021)3109266
2-102340802-C-T not specified Uncertain significance (Mar 02, 2023)2467554
2-102340819-A-G not specified Uncertain significance (Feb 01, 2023)2472299
2-102340821-G-T Likely benign (Jun 29, 2018)756392
2-102340826-A-G not specified Uncertain significance (Aug 21, 2023)2588902
2-102342236-T-G not specified Uncertain significance (Feb 22, 2023)2487464
2-102342258-G-A Benign/Likely benign (Jan 01, 2023)711194
2-102343044-G-A not specified Likely benign (Dec 27, 2023)3109268
2-102343108-A-T not specified Uncertain significance (May 23, 2024)3285820
2-102343174-A-G not specified Uncertain significance (May 23, 2023)2550490

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL1RL1protein_codingprotein_codingENST00000233954 1040536
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.44e-120.1831256960511257470.000203
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.193522951.190.00001473649
Missense in Polyphen11698.081.18271245
Synonymous0.2381081110.9710.000006261036
Loss of Function0.8742125.80.8140.00000119325

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004950.000485
Ashkenazi Jewish0.000.00
East Asian0.001390.00136
Finnish0.000.00
European (Non-Finnish)0.0001060.000105
Middle Eastern0.001390.00136
South Asian0.0001310.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for interleukin-33 (IL-33); signaling requires association of the coreceptor IL1RAP. Its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function. {ECO:0000269|PubMed:16286016, ECO:0000305|PubMed:19836339}.;
Pathway
Vitamin D Receptor Pathway;Signal Transduction;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;PIP3 activates AKT signaling;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Intracellular signaling by second messengers;Interleukin-33 signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

pRec
0.210

Intolerance Scores

loftool
0.962
rvis_EVS
2.78
rvis_percentile_EVS
99.03

Haploinsufficiency Scores

pHI
0.131
hipred
N
hipred_score
0.147
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.683

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Il1rl1
Phenotype
endocrine/exocrine gland phenotype; immune system phenotype; normal phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
negative regulation of T-helper 1 type immune response;immune response;signal transduction;negative regulation of interferon-gamma production;positive regulation of interleukin-5 production;interleukin-33-mediated signaling pathway;positive regulation of macrophage activation;positive regulation of inflammatory response;positive regulation of chemokine secretion
Cellular component
extracellular region;plasma membrane;external side of plasma membrane;integral component of membrane
Molecular function
cytokine receptor activity;interleukin-1 receptor activity;protein binding