IL18BP

interleukin 18 binding protein, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 11:71998613-72007315

Links

ENSG00000137496NCBI:10068OMIM:604113HGNC:5987Uniprot:O95998AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • hepatitis, fulminant viral, susceptibility to (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Hepatitis, fulminant viral, suspectibility toARAllergy/Immunology/InfectiousThe condition has been described as involving susceptibilty to fulminant viral hepatitis as well as other autoimmune manifestations, and awareness may allow prompt and aggressive management of infectious and related sequelaeAllergy/Immunology/Infectious31213488

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL18BP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL18BP 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
16
clinvar
7
clinvar
1
clinvar
24
missense
66
clinvar
5
clinvar
3
clinvar
74
nonsense
2
clinvar
2
start loss
0
frameshift
4
clinvar
4
inframe indel
2
clinvar
2
splice donor/acceptor (+/-2bp)
0
splice region
9
1
10
non coding
46
clinvar
11
clinvar
7
clinvar
64
Total 0 0 136 23 11

Variants in IL18BP

This is a list of pathogenic ClinVar variants found in the IL18BP region.

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

Position Type Phenotype Significance ClinVar
11-71999989-CCAT-C Uncertain significance (Apr 30, 2022)2132371
11-71999991-A-G Uncertain significance (Sep 08, 2023)2804421
11-72000002-CTG-C Uncertain significance (Dec 25, 2022)2824119
11-72000010-C-G Uncertain significance (Dec 22, 2023)2873009
11-72000013-G-GT Uncertain significance (Mar 08, 2023)2798305
11-72000018-C-T Uncertain significance (Jan 12, 2024)2892879
11-72000021-T-A Uncertain significance (Oct 23, 2022)2808518
11-72000025-G-A Uncertain significance (Nov 02, 2022)2095584
11-72000028-A-G Uncertain significance (Oct 09, 2023)2731128
11-72000030-G-A Uncertain significance (Mar 03, 2023)2867483
11-72000030-GC-AT Uncertain significance (Jul 05, 2022)2092682
11-72000332-G-A Uncertain significance (Mar 01, 2022)2019925
11-72000332-G-C Uncertain significance (May 21, 2022)1972978
11-72000333-T-C Uncertain significance (Oct 16, 2022)2808685
11-72000347-T-A Uncertain significance (Oct 05, 2023)1985233
11-72000348-C-G Uncertain significance (Oct 30, 2022)2810842
11-72000352-C-T Uncertain significance (Jun 08, 2022)2002781
11-72000353-C-T not specified Uncertain significance (Sep 25, 2023)1973999
11-72000358-C-A not specified Uncertain significance (Nov 03, 2023)3109200
11-72000363-T-C not specified Uncertain significance (Jun 17, 2024)2748801
11-72000373-G-A Likely benign (Nov 18, 2023)2696923
11-72000376-C-A Likely benign (Jan 15, 2024)1975910
11-72000376-C-T Benign (Dec 11, 2023)2060038
11-72000384-C-T Uncertain significance (Jan 29, 2024)2707387
11-72000386-C-A Uncertain significance (Mar 26, 2023)2039030

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IL18BPprotein_codingprotein_codingENST00000404792 57175
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.48e-80.06351247490561248050.000224
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5541261101.150.000006261229
Missense in Polyphen3122.5791.373293
Synonymous-0.7495447.41.140.00000272414
Loss of Function-0.541119.231.194.79e-795

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000151
Ashkenazi Jewish0.000.00
East Asian0.001000.00100
Finnish0.000.00
European (Non-Finnish)0.0001420.000141
Middle Eastern0.001000.00100
South Asian0.0005990.000556
Other0.0001650.000165

dbNSFP

Source: dbNSFP

Function
FUNCTION: Isoform A binds to IL-18 and inhibits its activity. Functions as an inhibitor of the early TH1 cytokine response. {ECO:0000269|PubMed:10023777, ECO:0000269|PubMed:10655506}.;
Pathway
Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-18 signaling;Purine metabolism;Immune System;Interleukin-37 signaling;Interleukin-1 family signaling (Consensus)

Recessive Scores

pRec
0.0732

Intolerance Scores

loftool
0.645
rvis_EVS
0.26
rvis_percentile_EVS
70.26

Haploinsufficiency Scores

pHI
0.0408
hipred
N
hipred_score
0.123
ghis
0.500

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Il18bp
Phenotype
hematopoietic system phenotype; reproductive system phenotype; liver/biliary system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
response to lipopolysaccharide;interleukin-18-mediated signaling pathway;T-helper 1 type immune response;cellular response to hydrogen peroxide;cellular response to cytokine stimulus;cellular response to tumor necrosis factor;extracellular negative regulation of signal transduction
Cellular component
extracellular region;extracellular space;extracellular exosome
Molecular function
interleukin-18 binding;receptor antagonist activity