IL9
Basic information
Region (hg38): 5:135892246-135895841
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (18 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000590.2. 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 | 1 | |||||
missense | 17 | 18 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 17 | 2 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL9 | protein_coding | protein_coding | ENST00000274520 | 5 | 3582 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.11e-7 | 0.0926 | 125530 | 0 | 213 | 125743 | 0.000847 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.253 | 70 | 76.2 | 0.918 | 0.00000363 | 944 |
Missense in Polyphen | 26 | 23.704 | 1.0969 | 289 | ||
Synonymous | -0.224 | 32 | 30.4 | 1.05 | 0.00000169 | 273 |
Loss of Function | -0.898 | 8 | 5.69 | 1.41 | 2.39e-7 | 71 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000183 | 0.000181 |
Ashkenazi Jewish | 0.000199 | 0.000198 |
East Asian | 0.00881 | 0.00885 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000159 | 0.000158 |
Middle Eastern | 0.00881 | 0.00885 |
South Asian | 0.000823 | 0.000817 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Supports IL-2 independent and IL-4 independent growth of helper T-cells.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Asthma - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;IL-9 Signaling Pathway;Development and heterogeneity of the ILC family;T-Cell antigen Receptor (TCR) Signaling Pathway;Signaling by Interleukins;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Interleukin-9 signaling;Immune System;Interleukin-2 family signaling;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT pathway and regulation;GPCR signaling-G alpha i
(Consensus)
Recessive Scores
- pRec
- 0.280
Intolerance Scores
- loftool
- 0.732
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.11
Haploinsufficiency Scores
- pHI
- 0.0555
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.631
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il9
- Phenotype
- homeostasis/metabolism phenotype; immune system phenotype; digestive/alimentary phenotype; normal phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- inflammatory response;immune response;positive regulation of cell population proliferation;regulation of signaling receptor activity;positive regulation of cell growth;interleukin-9-mediated signaling pathway;positive regulation of interleukin-5 biosynthetic process
- Cellular component
- extracellular region;extracellular space
- Molecular function
- cytokine activity;interleukin-9 receptor binding;growth factor activity