IL25

interleukin 25, the group of Interleukins

Basic information

Region (hg38): 14:23372808-23376403

Previous symbols: [ "IL17E" ]

Links

ENSG00000166090 ∙ ∙ OMIM:605658 ∙ HGNC:13765 ∙ Uniprot:Q9H293 ∙ 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 IL25 gene.

• Inborn genetic diseases (11 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL25 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						0
missense			10	2	1	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	2	1

Variants in IL25

This is a list of pathogenic ClinVar variants found in the IL25 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-23373210-A-C		not specified	Uncertain significance (Jun 05, 2023)
14-23373221-C-T		not specified	Uncertain significance (Aug 12, 2022)
14-23373231-G-A		not specified	Uncertain significance (Dec 07, 2021)
14-23373287-G-C		not specified	Uncertain significance (Dec 19, 2023)
14-23373336-C-A		not specified	Uncertain significance (Jan 04, 2024)
14-23375635-G-T		not specified	Uncertain significance (Oct 17, 2023)
14-23375659-C-G		not specified	Uncertain significance (Aug 09, 2021)
14-23375671-C-T		not specified	Uncertain significance (Dec 16, 2023)
14-23375743-C-G		not specified	Uncertain significance (Oct 03, 2022)
14-23375770-C-T			Benign (Aug 15, 2018)
14-23375776-C-G		not specified	Uncertain significance (May 31, 2022)
14-23375788-G-A		not specified	Likely benign (Feb 23, 2023)
14-23375804-A-G		not specified	Uncertain significance (May 10, 2022)
14-23375822-G-T		not specified	Uncertain significance (Jun 17, 2022)
14-23375834-G-A		not specified	Uncertain significance (Dec 01, 2022)
14-23375852-T-C		not specified	Uncertain significance (Dec 27, 2022)
14-23375861-G-A		not specified	Uncertain significance (May 25, 2022)
14-23375867-G-A			Likely benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL25	protein_coding	protein_coding	ENST00000329715	2	3595

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000923	0.591	125380	0	5	125385	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00654	111	111	1.00	0.00000672	1145
Missense in Polyphen		48	46.278	1.0372		441
Synonymous	-0.492	48	43.9	1.09	0.00000235	364
Loss of Function	0.487	5	6.32	0.791	3.54e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces activation of NF-kappa-B and stimulates production of the proinflammatory chemokine IL-8. Proinflammatory cytokine favoring Th2-type immune responses.
• Pathway: IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway;Vitamin D Receptor Pathway;Development and heterogeneity of the ILC family (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.885
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.123
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.328

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il25
• Phenotype: hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype; immune system phenotype; digestive/alimentary phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: inflammatory response to antigenic stimulus;biological_process;response to fungus;response to nematode;regulation of signaling receptor activity;eosinophil differentiation;interleukin-13 production;interleukin-5 production;positive regulation of transcription by RNA polymerase II;interleukin-17-mediated signaling pathway
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;interleukin-17E receptor binding