IL17RB
Basic information
Region (hg38): 3:53846568-53865794
Previous symbols: [ "IL17BR" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (57 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17RB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018725.4. 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 | 50 | 58 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 50 | 8 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL17RB | protein_coding | protein_coding | ENST00000288167 | 11 | 19221 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
4.46e-11 | 0.341 | 125154 | 1 | 593 | 125748 | 0.00236 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.258 | 286 | 274 | 1.04 | 0.0000138 | 3285 |
Missense in Polyphen | 64 | 72.668 | 0.88072 | 961 | ||
Synonymous | 0.905 | 94 | 106 | 0.888 | 0.00000599 | 965 |
Loss of Function | 1.03 | 19 | 24.5 | 0.776 | 0.00000130 | 264 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0103 | 0.0103 |
Ashkenazi Jewish | 0.00606 | 0.00607 |
East Asian | 0.00496 | 0.00480 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000775 | 0.000774 |
Middle Eastern | 0.00496 | 0.00480 |
South Asian | 0.000801 | 0.000784 |
Other | 0.00167 | 0.00163 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the proinflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells. {ECO:0000269|PubMed:11058597}.;
- Pathway
- IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);IL17 signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.0911
Intolerance Scores
- loftool
- 0.927
- rvis_EVS
- 1.02
- rvis_percentile_EVS
- 91.05
Haploinsufficiency Scores
- pHI
- 0.120
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.409
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.157
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il17rb
- Phenotype
- respiratory system phenotype; hematopoietic system phenotype; digestive/alimentary phenotype; skeleton phenotype; immune system phenotype; cellular phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- regulation of cell growth;defense response;positive regulation of inflammatory response;interleukin-17-mediated signaling pathway;positive regulation of interleukin-5 secretion;positive regulation of interleukin-13 secretion
- Cellular component
- extracellular region;cytoplasm;plasma membrane;integral component of plasma membrane;cell surface;membrane
- Molecular function
- cytokine receptor activity;interleukin-17 receptor activity