IL1F10

interleukin 1 family member 10, the group of Interleukins

Basic information

Region (hg38): 2:113067969-113075843

Links

ENSG00000136697 ∙ NCBI:84639 ∙ OMIM:615296 ∙ HGNC:15552 ∙ Uniprot:Q8WWZ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL1F10 gene.

• Inborn genetic diseases (8 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL1F10 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		1
missense			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	0

Variants in IL1F10

This is a list of pathogenic ClinVar variants found in the IL1F10 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-113074387-G-A		not specified	Uncertain significance (Nov 07, 2022)
2-113074737-C-T		not specified	Uncertain significance (Sep 14, 2021)
2-113074758-C-T		not specified	Uncertain significance (Oct 29, 2021)
2-113074762-C-A		not specified	Uncertain significance (Jun 21, 2023)
2-113074767-G-A		not specified	Uncertain significance (Jul 14, 2023)
2-113074787-C-T			Likely benign (Mar 29, 2018)
2-113074800-C-T		not specified	Likely benign (Dec 06, 2022)
2-113075195-C-G		not specified	Uncertain significance (Mar 01, 2023)
2-113075198-G-A		not specified	Uncertain significance (Dec 13, 2022)
2-113075345-A-G		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL1F10	protein_coding	protein_coding	ENST00000393197	4	7881

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000202	0.154	125697	0	50	125747	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.275	91	83.9	1.08	0.00000434	974
Missense in Polyphen		28	23.222	1.2058		293
Synonymous	-1.33	41	31.5	1.30	0.00000153	299
Loss of Function	-0.439	8	6.77	1.18	2.85e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000822	0.000821
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000221	0.000217
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000211	0.000211
Middle Eastern	0.000221	0.000217
South Asian	0.0000658	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2. {ECO:0000269|PubMed:22315422}.
• Pathway: Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System;Interleukin-36 pathway;Interleukin-38 signaling;Interleukin-1 family signaling (Consensus)

Intolerance Scores

• loftool: 0.847
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.99

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.170
• ghis: 0.393

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0862

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il1f10

Gene ontology

• Biological process: inflammatory response;immune response;regulation of signaling receptor activity;cytokine-mediated signaling pathway;neutrophil chemotaxis;positive regulation of interleukin-6 production;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of JNK cascade;cellular response to lipopolysaccharide;cellular response to cytokine stimulus
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;interleukin-1 receptor binding