IL1RL1
Basic information
Region (hg38): 2:102311502-102352037
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 7 | |||||
missense | 30 | 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) | ||
2-102338283-G-T | Likely benign (Jun 22, 2018) | |||
2-102338317-C-G | not specified | Uncertain significance (Jun 16, 2024) | ||
2-102338909-C-A | not specified | Uncertain significance (May 24, 2023) | ||
2-102338916-T-C | Likely benign (Dec 01, 2023) | |||
2-102338965-C-T | not specified | Uncertain significance (Sep 17, 2021) | ||
2-102339020-C-G | not specified | Uncertain significance (Dec 27, 2022) | ||
2-102340123-G-A | not specified | Uncertain significance (Apr 13, 2023) | ||
2-102340192-T-A | not specified | Uncertain significance (Oct 13, 2023) | ||
2-102340194-T-C | Benign (Jun 18, 2018) | |||
2-102340228-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
2-102340676-C-T | Benign (Dec 31, 2019) | |||
2-102340704-C-A | not specified | Uncertain significance (Jul 09, 2021) | ||
2-102340744-G-A | Benign (Feb 05, 2021) | |||
2-102340747-G-A | not specified | Uncertain significance (May 18, 2023) | ||
2-102340784-G-T | not specified | Uncertain significance (Dec 07, 2021) | ||
2-102340802-C-T | not specified | Uncertain significance (Mar 02, 2023) | ||
2-102340819-A-G | not specified | Uncertain significance (Feb 01, 2023) | ||
2-102340821-G-T | Likely benign (Jun 29, 2018) | |||
2-102340826-A-G | not specified | Uncertain significance (Aug 21, 2023) | ||
2-102342236-T-G | not specified | Uncertain significance (Feb 22, 2023) | ||
2-102342258-G-A | Benign/Likely benign (Jan 01, 2023) | |||
2-102343044-G-A | not specified | Likely benign (Dec 27, 2023) | ||
2-102343108-A-T | not specified | Uncertain significance (May 23, 2024) | ||
2-102343174-A-G | not specified | Uncertain significance (May 23, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL1RL1 | protein_coding | protein_coding | ENST00000233954 | 10 | 40536 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.44e-12 | 0.183 | 125696 | 0 | 51 | 125747 | 0.000203 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.19 | 352 | 295 | 1.19 | 0.0000147 | 3649 |
Missense in Polyphen | 116 | 98.08 | 1.1827 | 1245 | ||
Synonymous | 0.238 | 108 | 111 | 0.971 | 0.00000626 | 1036 |
Loss of Function | 0.874 | 21 | 25.8 | 0.814 | 0.00000119 | 325 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000495 | 0.000485 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00139 | 0.00136 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000106 | 0.000105 |
Middle Eastern | 0.00139 | 0.00136 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
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