IL32
Basic information
Region (hg38): 16:3065297-3082192
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 IL32 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 | 1 | |||||
missense | 21 | 27 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 2 | 3 | |||
non coding | 1 | |||||
Total | 0 | 0 | 21 | 3 | 6 |
Variants in IL32
This is a list of pathogenic ClinVar variants found in the IL32 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-3067372-C-T | Likely benign (Mar 29, 2018) | |||
16-3067373-G-A | Benign (Jul 26, 2018) | |||
16-3067377-G-A | Benign (Jul 21, 2018) | |||
16-3067422-C-CT | Likely benign (May 14, 2018) | |||
16-3067563-A-C | Benign (Jun 29, 2018) | |||
16-3067567-A-G | not specified | Uncertain significance (Jun 09, 2022) | ||
16-3067569-A-G | Benign (Jun 29, 2018) | |||
16-3067575-T-C | not specified | Uncertain significance (May 05, 2022) | ||
16-3067576-A-G | Benign (Jun 29, 2018) | |||
16-3067605-C-T | not specified | Uncertain significance (Dec 06, 2023) | ||
16-3067606-G-A | Likely benign (Jul 31, 2018) | |||
16-3067992-G-A | Benign (Aug 01, 2018) | |||
16-3067997-T-C | not specified | Uncertain significance (Oct 06, 2021) | ||
16-3068004-G-C | not specified | Uncertain significance (Jan 21, 2022) | ||
16-3068005-C-G | not specified | Uncertain significance (Nov 14, 2024) | ||
16-3068006-T-G | not specified | Uncertain significance (Nov 14, 2024) | ||
16-3068170-C-T | Likely benign (Jul 05, 2018) | |||
16-3068194-G-C | not specified | Uncertain significance (Apr 01, 2024) | ||
16-3068223-A-C | not specified | Uncertain significance (Sep 12, 2023) | ||
16-3068238-C-T | Benign (Jul 06, 2018) | |||
16-3068239-A-G | Benign (Jul 31, 2018) | |||
16-3068996-A-G | not specified | Uncertain significance (May 31, 2023) | ||
16-3069086-C-A | not specified | Uncertain significance (Jan 24, 2023) | ||
16-3069090-G-T | not specified | Uncertain significance (May 25, 2022) | ||
16-3069114-T-G | not specified | Uncertain significance (Oct 25, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL32 | protein_coding | protein_coding | ENST00000525643 | 6 | 16611 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.75e-9 | 0.0286 | 125707 | 0 | 37 | 125744 | 0.000147 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -2.35 | 165 | 99.2 | 1.66 | 0.00000538 | 1181 |
Missense in Polyphen | 32 | 20.669 | 1.5482 | 252 | ||
Synonymous | -2.70 | 59 | 37.8 | 1.56 | 0.00000220 | 323 |
Loss of Function | -1.11 | 11 | 7.68 | 1.43 | 4.11e-7 | 82 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000849 | 0.000753 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000653 | 0.000653 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.000653 | 0.000653 |
South Asian | 0.000214 | 0.000196 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF- alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. {ECO:0000269|PubMed:15664165}.;
- Pathway
- Other interleukin signaling;Signaling by Interleukins;Cytokine Signaling in Immune system;Immune System
(Consensus)
Intolerance Scores
- loftool
- 0.999
- rvis_EVS
- 1.55
- rvis_percentile_EVS
- 95.62
Haploinsufficiency Scores
- pHI
- 0.0553
- hipred
- N
- hipred_score
- 0.146
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.135
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- defense response;immune response;cell adhesion;regulation of signaling receptor activity;cytokine-mediated signaling pathway
- Cellular component
- extracellular space;cytosol;membrane
- Molecular function
- cytokine activity;protein binding