IL18BP

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

Basic information

Region (hg38): 11:71998613-72007315

Links

ENSG00000137496 ∙ NCBI:10068 ∙ OMIM:604113 ∙ HGNC:5987 ∙ Uniprot:O95998 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hepatitis, fulminant viral, suspectibility to	AR	Allergy/Immunology/Infectious	The 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 sequelae	Allergy/Immunology/Infectious	31213488

ClinVar

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

• not_provided (162 variants)
• not_specified (34 variants)
• Hepatitis,_fulminant_viral,_susceptibility_to (2 variants)

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. These statistics are base on transcript: NM_001039660.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			13	20	1	34
missense			79	5	3	87
nonsense			2			2
start loss						0
frameshift			4			4
splice donor/acceptor (+/-2bp)			7			7
Total	0	0	105	25	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL18BP	protein_coding	protein_coding	ENST00000404792	5	7175

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.48e-8	0.0635	124749	0	56	124805	0.000224

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.554	126	110	1.15	0.00000626	1229
Missense in Polyphen		31	22.579	1.373		293
Synonymous	-0.749	54	47.4	1.14	0.00000272	414
Loss of Function	-0.541	11	9.23	1.19	4.79e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.00100	0.00100
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.00100	0.00100
South Asian	0.000599	0.000556
Other	0.000165	0.000165

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

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

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