IL31

interleukin 31, the group of Interleukins

Basic information

Region (hg38): 12:122172029-122174221

Links

ENSG00000204671 ∙ NCBI:386653 ∙ OMIM:609509 ∙ HGNC:19372 ∙ Uniprot:Q6EBC2 ∙ 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 IL31 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL31 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				2		2
missense			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	3	0

Variants in IL31

This is a list of pathogenic ClinVar variants found in the IL31 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-122172456-C-T		not specified	Uncertain significance (Jul 06, 2021)
12-122172524-G-A		not specified	Uncertain significance (Apr 04, 2024)
12-122172531-C-T		not specified	Uncertain significance (Aug 02, 2021)
12-122172552-C-T		not specified	Uncertain significance (Nov 17, 2022)
12-122172588-T-C		not specified	Uncertain significance (Aug 17, 2022)
12-122172610-G-T		not specified	Uncertain significance (Aug 13, 2021)
12-122172614-A-G		not specified	Uncertain significance (Jun 12, 2023)
12-122172705-A-G		not specified	Uncertain significance (Jun 29, 2023)
12-122172724-G-A		not specified	Likely benign (Mar 07, 2024)
12-122172724-G-C		not specified	Likely benign (Feb 21, 2024)
12-122173846-C-T		not specified	Uncertain significance (Oct 05, 2023)
12-122173905-C-T		not specified	Uncertain significance (Sep 21, 2023)
12-122173908-G-C		not specified	Uncertain significance (Jul 08, 2022)
12-122173924-C-T		not specified	Likely benign (Sep 29, 2023)
12-122173983-G-A		not specified	Uncertain significance (Jan 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL31	protein_coding	protein_coding	ENST00000377035	3	2170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0114	0.650	125674	0	2	125676	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.725	79	99.3	0.795	0.00000603	1060
Missense in Polyphen		11	15.015	0.73261		205
Synonymous	-0.339	48	45.1	1.06	0.00000308	333
Loss of Function	0.455	3	3.98	0.754	2.68e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Activates STAT3 and possibly STAT1 and STAT5 through the IL31 heterodimeric receptor composed of IL31RA and OSMR (PubMed:15184896). May function in skin immunity (PubMed:15184896). Enhances myeloid progenitor cell survival in vitro (By similarity). Induces RETNLA and serum amyloid A protein expression in macrophages (By similarity). {ECO:0000250|UniProtKB:Q6EAL8, ECO:0000269|PubMed:15184896}.
• Pathway: JAK-STAT-Core (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.204
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.220

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.769

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Il31

Gene ontology

• Biological process: immune system process;regulation of signaling receptor activity;cytokine-mediated signaling pathway
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;cytokine receptor binding