IL18RAP
Basic information
Region (hg38): 2:102418689-102452565
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 IL18RAP 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 | 1 | |||||
missense | 19 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 19 | 7 | 1 |
Variants in IL18RAP
This is a list of pathogenic ClinVar variants found in the IL18RAP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-102423314-G-T | not specified | Likely benign (Aug 02, 2022) | ||
2-102423822-A-G | not specified | Uncertain significance (Oct 12, 2021) | ||
2-102423837-A-G | not specified | Likely benign (Oct 26, 2022) | ||
2-102423884-A-C | not specified | Uncertain significance (Apr 23, 2024) | ||
2-102423908-C-A | not specified | Uncertain significance (Jun 07, 2024) | ||
2-102424104-G-C | not specified | Uncertain significance (May 03, 2023) | ||
2-102424266-T-C | not specified | Uncertain significance (May 17, 2023) | ||
2-102424272-A-C | not specified | Uncertain significance (Jun 07, 2023) | ||
2-102424325-G-T | not specified | Likely benign (Jul 06, 2021) | ||
2-102424707-T-C | Ascending aortic dissection | association (Feb 01, 2021) | ||
2-102437246-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
2-102437250-C-T | Likely benign (May 25, 2018) | |||
2-102437251-G-A | not specified | Uncertain significance (Sep 15, 2021) | ||
2-102437263-G-A | not specified | Likely benign (Feb 23, 2023) | ||
2-102437309-C-T | not specified | Uncertain significance (Oct 21, 2021) | ||
2-102437356-A-G | not specified | Uncertain significance (Sep 20, 2023) | ||
2-102441345-A-T | not specified | Uncertain significance (May 17, 2023) | ||
2-102441354-A-G | not specified | Uncertain significance (Oct 03, 2022) | ||
2-102443235-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
2-102443271-T-C | not specified | Uncertain significance (Nov 02, 2023) | ||
2-102443307-G-T | not specified | Uncertain significance (Dec 07, 2021) | ||
2-102443564-T-A | Ascending aortic dissection | association (Feb 01, 2021) | ||
2-102445221-A-G | not specified | Uncertain significance (May 27, 2022) | ||
2-102445230-T-A | not specified | Uncertain significance (Sep 29, 2023) | ||
2-102445274-G-A | not specified | Likely benign (May 06, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL18RAP | protein_coding | protein_coding | ENST00000264260 | 10 | 33877 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00218 | 0.998 | 125718 | 0 | 30 | 125748 | 0.000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.699 | 283 | 318 | 0.890 | 0.0000160 | 3915 |
Missense in Polyphen | 52 | 83.281 | 0.62439 | 1152 | ||
Synonymous | -0.592 | 131 | 123 | 1.07 | 0.00000667 | 1132 |
Loss of Function | 3.30 | 10 | 29.3 | 0.342 | 0.00000155 | 343 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000638 | 0.0000638 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000740 | 0.000739 |
European (Non-Finnish) | 0.0000712 | 0.0000703 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000653 | 0.0000653 |
Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Within the IL18 receptor complex, does not mediate IL18- binding, but involved in IL18-dependent signal transduction, leading to NF-kappa-B and JNK activation (PubMed:9792649, PubMed:14528293, PubMed:25500532). May play a role in IL18- mediated IFNG synthesis from T-helper 1 (Th1) cells (Probable). {ECO:0000269|PubMed:14528293, ECO:0000269|PubMed:25500532, ECO:0000269|PubMed:9792649, ECO:0000305|PubMed:10653850}.;
- Pathway
- Inflammatory bowel disease (IBD) - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Signaling by Interleukins;Cytokine Signaling in Immune system;IL12 signaling mediated by STAT4;Interleukin-18 signaling;Immune System;IL23-mediated signaling events;IL12-mediated signaling events;Interleukin-1 family signaling
(Consensus)
Recessive Scores
- pRec
- 0.178
Intolerance Scores
- loftool
- 0.624
- rvis_EVS
- 0.02
- rvis_percentile_EVS
- 55.61
Haploinsufficiency Scores
- pHI
- 0.0878
- hipred
- N
- hipred_score
- 0.273
- ghis
- 0.500
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0357
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il18rap
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- inflammatory response;immune response;cell population proliferation;interferon-gamma production;interleukin-6 production;interleukin-18-mediated signaling pathway;T-helper 1 cell cytokine production;neutrophil activation;positive regulation of natural killer cell mediated cytotoxicity;positive regulation of NF-kappaB transcription factor activity;cellular response to hydrogen peroxide
- Cellular component
- plasma membrane;interleukin-18 receptor complex
- Molecular function
- interleukin-18 receptor activity