IL19
Basic information
Region (hg38): 1:206770764-206842981
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inflammatory_bowel_disease (49 variants)
- not_specified (33 variants)
- not_provided (5 variants)
- Rheumatoid_arthritis (1 variants)
- Graft-versus-host_disease,_susceptibility_to (1 variants)
- Susceptibility_to_HIV_infection (1 variants)
- Rheumatoid_arthritis,_progression_of (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL19 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153758.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 21 | 25 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 21 | 4 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IL19 | protein_coding | protein_coding | ENST00000340758 | 6 | 44110 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000433 | 0.652 | 125736 | 1 | 9 | 125746 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.668 | 100 | 121 | 0.829 | 0.00000635 | 1417 |
| Missense in Polyphen | 20 | 30.375 | 0.65843 | 459 | ||
| Synonymous | 0.299 | 45 | 47.6 | 0.945 | 0.00000288 | 398 |
| Loss of Function | 0.863 | 8 | 11.1 | 0.721 | 5.70e-7 | 121 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000704 | 0.0000703 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000982 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May play some important roles in inflammatory responses. Up-regulates IL-6 and TNF-alpha and induces apoptosis (By similarity). {ECO:0000250}.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Signaling by Interleukins;Cytokine Signaling in Immune system;Interleukin-20 family signaling;Immune System;IL23-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.146
Intolerance Scores
- loftool
- 0.483
- rvis_EVS
- 0.5
- rvis_percentile_EVS
- 79.89
Haploinsufficiency Scores
- pHI
- 0.0311
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.379
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il19
- Phenotype
- growth/size/body region phenotype; digestive/alimentary 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); immune system phenotype;
Gene ontology
- Biological process
- apoptotic process;immune response;signal transduction;regulation of signaling receptor activity;negative regulation of low-density lipoprotein particle clearance;cytokine-mediated signaling pathway;interleukin-6 biosynthetic process;reactive oxygen species metabolic process;negative regulation of extrinsic apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- extracellular region;extracellular space
- Molecular function
- cytokine activity