IL20RA
Basic information
Region (hg38): 6:136999971-137045180
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL20RA 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 | 26 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 2 | ||||
non coding | 2 | |||||
Total | 0 | 0 | 28 | 0 | 0 |
Variants in IL20RA
This is a list of pathogenic ClinVar variants found in the IL20RA region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-137001583-C-G | not specified | Uncertain significance (Aug 16, 2022) | ||
6-137001592-T-C | not specified | Uncertain significance (Dec 22, 2023) | ||
6-137001655-T-C | not specified | Uncertain significance (Jul 14, 2024) | ||
6-137001662-T-C | not specified | Uncertain significance (Dec 18, 2023) | ||
6-137001683-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
6-137001686-G-A | not specified | Uncertain significance (Sep 02, 2024) | ||
6-137001722-C-T | not specified | Uncertain significance (Feb 07, 2023) | ||
6-137001865-G-C | not specified | Uncertain significance (May 08, 2023) | ||
6-137001880-T-C | not specified | Uncertain significance (Jan 09, 2024) | ||
6-137001928-A-G | not specified | Uncertain significance (Nov 20, 2024) | ||
6-137001931-G-A | not specified | Uncertain significance (Jan 10, 2023) | ||
6-137001934-C-T | not specified | Uncertain significance (Jan 20, 2023) | ||
6-137001998-T-A | not specified | Uncertain significance (Dec 01, 2022) | ||
6-137002039-G-A | not specified | Uncertain significance (Dec 02, 2022) | ||
6-137002100-C-T | not specified | Uncertain significance (Aug 19, 2023) | ||
6-137002114-A-C | not specified | Uncertain significance (Apr 20, 2023) | ||
6-137002250-G-A | not specified | Uncertain significance (Dec 04, 2024) | ||
6-137002258-T-C | not specified | Uncertain significance (Jul 31, 2024) | ||
6-137004649-A-G | not specified | Uncertain significance (Jun 29, 2022) | ||
6-137004650-C-T | not specified | Uncertain significance (Oct 24, 2024) | ||
6-137004688-A-C | not specified | Uncertain significance (Sep 03, 2024) | ||
6-137004748-T-C | not specified | Uncertain significance (Nov 13, 2024) | ||
6-137004764-TA-T | not specified | Benign (Mar 29, 2016) | ||
6-137004764-TAA-T | not specified | Benign (Mar 29, 2016) | ||
6-137008618-C-A | not specified | Uncertain significance (Aug 12, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL20RA | protein_coding | protein_coding | ENST00000316649 | 7 | 45191 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0271 | 0.971 | 125715 | 0 | 32 | 125747 | 0.000127 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.712 | 252 | 286 | 0.881 | 0.0000147 | 3581 |
Missense in Polyphen | 58 | 73.919 | 0.78464 | 944 | ||
Synonymous | 1.11 | 103 | 118 | 0.871 | 0.00000691 | 1084 |
Loss of Function | 2.68 | 6 | 18.4 | 0.325 | 8.67e-7 | 231 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000323 | 0.000323 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000159 | 0.000158 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000656 | 0.0000653 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26.;
- 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
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.538
- rvis_EVS
- 0.38
- rvis_percentile_EVS
- 75.51
Haploinsufficiency Scores
- pHI
- 0.138
- hipred
- N
- hipred_score
- 0.233
- ghis
- 0.561
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.534
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il20ra
- 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); hematopoietic system phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype;
Gene ontology
- Biological process
- cytokine-mediated signaling pathway;regulation of bone resorption;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- plasma membrane;integral component of membrane
- Molecular function
- cytokine receptor activity;protein binding;interleukin-20 binding