IL5
interleukin 5, the group of Interleukins
Basic information
Region (hg38): 5:132541444-132556838
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (3 variants)
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL5 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 | 3 | |||||
| missense | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 2 | 0 | 3 |
Variants in IL5
This is a list of pathogenic ClinVar variants found in the IL5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-132541832-G-T | Benign (Jul 31, 2018) | |||
| 5-132541904-C-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 5-132541904-C-T | Benign (Apr 20, 2018) | |||
| 5-132543125-G-A | not specified | Uncertain significance (Dec 03, 2021) | ||
| 5-132543371-C-A | Benign (Jul 13, 2018) | |||
| 5-132556665-C-T | Benign (Apr 09, 2019) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IL5 | protein_coding | protein_coding | ENST00000231454 | 4 | 15395 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00565 | 0.737 | 125716 | 0 | 11 | 125727 | 0.0000437 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.110 | 72 | 69.4 | 1.04 | 0.00000343 | 862 |
| Missense in Polyphen | 24 | 20.588 | 1.1657 | 291 | ||
| Synonymous | -0.0420 | 26 | 25.7 | 1.01 | 0.00000129 | 268 |
| Loss of Function | 0.808 | 4 | 6.16 | 0.649 | 3.25e-7 | 74 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000440 | 0.0000440 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000336 | 0.0000327 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells.;
- Pathway
- T cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Allograft rejection - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Autoimmune thyroid disease - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);Asthma - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Intestinal immune network for IgA production - Homo sapiens (human);Fc Epsilon Receptor I Signaling in Mast Cells;JAK-STAT-Core;Allograft Rejection;Hematopoietic Stem Cell Differentiation;Lung fibrosis;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;Development and heterogeneity of the ILC family;Inflammatory Response Pathway;Cytokines and Inflammatory Response;Signaling by GPCR;Signal Transduction;Signaling by Interleukins;gata3 participate in activating the th2 cytokine genes expression;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Immune System;Interleukin receptor SHC signaling;Interleukin-2 family signaling;IL5-mediated signaling events;GPCR signaling-G alpha s Epac and ERK;IL-5 signaling;GPCR signaling-G alpha s PKA and ERK;Glucocorticoid receptor regulatory network;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;IL5;GPCR signaling-G alpha i;G beta:gamma signalling through PI3Kgamma;G-protein beta:gamma signalling;GPCR downstream signalling;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;AP-1 transcription factor network;IL4-mediated signaling events;Regulation of nuclear SMAD2/3 signaling;Interleukin-3, 5 and GM-CSF signaling
(Consensus)
Recessive Scores
- pRec
- 0.721
Intolerance Scores
- loftool
- 0.346
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.128
- hipred
- N
- hipred_score
- 0.194
- ghis
- 0.476
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.981
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il5
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; hematopoietic system phenotype; reproductive system phenotype; neoplasm; digestive/alimentary phenotype; immune system phenotype;
Gene ontology
- Biological process
- MAPK cascade;inflammatory response;immune response;regulation of signaling receptor activity;peptidyl-tyrosine phosphorylation;cytokine-mediated signaling pathway;positive regulation of B cell proliferation;positive regulation of eosinophil differentiation;positive regulation of transcription, DNA-templated;positive regulation of JAK-STAT cascade;positive regulation of peptidyl-tyrosine phosphorylation;positive regulation of immunoglobulin secretion;positive regulation of DNA-binding transcription factor activity;positive regulation of podosome assembly
- Cellular component
- extracellular region;extracellular space
- Molecular function
- protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;cytokine activity;interleukin-5 receptor binding;protein binding;growth factor activity