IL20

interleukin 20, the group of Interleukins

Basic information

Region (hg38): 1:206865622-206869223

Links

ENSG00000162891 ∙ NCBI:50604 ∙ OMIM:605619 ∙ HGNC:6002 ∙ Uniprot:Q9NYY1 ∙ 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 IL20 gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL20 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in IL20

This is a list of pathogenic ClinVar variants found in the IL20 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-206865938-A-G		not specified	Uncertain significance (Jan 26, 2023)
1-206865958-G-A		not specified	Likely benign (Jan 02, 2024)
1-206866334-A-C		not specified	Uncertain significance (Feb 10, 2023)
1-206866509-G-A		not specified	Uncertain significance (Aug 13, 2021)
1-206866545-A-T		not specified	Uncertain significance (May 24, 2023)
1-206866559-C-A		not specified	Uncertain significance (Dec 30, 2023)
1-206867444-A-C		not specified	Uncertain significance (Mar 29, 2022)
1-206868523-G-A			Uncertain significance (Mar 28, 2022)
1-206868523-G-C		not specified	Uncertain significance (Nov 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL20	protein_coding	protein_coding	ENST00000367098	5	3870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000134	0.225	125433	2	297	125732	0.00119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.127	95	98.5	0.964	0.00000533	1154
Missense in Polyphen		34	33.497	1.015		429
Synonymous	0.204	34	35.5	0.956	0.00000183	338
Loss of Function	0.0221	9	9.07	0.992	5.47e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00217	0.00217
Ashkenazi Jewish	0.00536	0.00527
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000828	0.000827
Middle Eastern	0.0000544	0.0000544
South Asian	0.00323	0.00321
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proinflammatory and angiogenic cytokine that may be involved in epidermal function and psoriasis. Angiogenic and proliferative activities are antagonized by IL10. May act through STAT3. {ECO:0000269|PubMed:16511554}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core (Consensus)

Recessive Scores

• pRec: 0.179

Intolerance Scores

• loftool: 0.764
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.49

Haploinsufficiency Scores

• pHI: 0.159
• hipred: N
• hipred_score: 0.224
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.852

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il20
• Phenotype: immune system phenotype

Gene ontology

• Biological process: regulation of signaling receptor activity;cytokine-mediated signaling pathway;positive regulation of tyrosine phosphorylation of STAT protein;positive regulation of epidermal cell differentiation;positive regulation of keratinocyte differentiation;positive regulation of osteoclast differentiation;regulation of inflammatory response
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;interleukin-20 receptor binding;interleukin-22 receptor binding