ALOX5
arachidonate 5-lipoxygenase, the group of Arachidonate lipoxygenases
Basic information
Region (hg38): 10:45374176-45446119
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Asthma, diminished response to antileukotriene treatment in | AD | Pharmacogenomic | Variants may have pharmacogenomic importance | General | 9062372; 9698605; 10369259; 14702425 |
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 ALOX5 gene is commonly pathogenic or not. These statistics are base on trasncript: . 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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 39 | 42 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 39 | 6 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ALOX5 | protein_coding | protein_coding | ENST00000374391 | 14 | 71901 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000121 | 1.00 | 125713 | 0 | 35 | 125748 | 0.000139 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.09 | 363 | 427 | 0.851 | 0.0000278 | 4413 |
| Missense in Polyphen | 130 | 177.85 | 0.73096 | 1931 | ||
| Synonymous | -0.230 | 184 | 180 | 1.02 | 0.0000129 | 1246 |
| Loss of Function | 3.38 | 17 | 40.1 | 0.424 | 0.00000232 | 392 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000451 | 0.000449 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000166 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000115 | 0.000114 |
| Middle Eastern | 0.000166 | 0.000163 |
| South Asian | 0.000261 | 0.000261 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. {ECO:0000269|PubMed:21233389}.;
- Pathway
- Fc epsilon RI signaling pathway - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Leukotriene modifiers pathway, Pharmacodynamics;Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Selenium Micronutrient Network;Eicosanoid Synthesis;Vitamin D Receptor Pathway;Interleukin-4 and 13 signaling;Neutrophil degranulation;eicosanoid metabolism;Metabolism of lipids;Prostaglandin Leukotriene metabolism;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of 5-eicosatetraenoic acids;Arachidonic acid metabolism;Leukotriene metabolism;Synthesis of Lipoxins (LX);Innate Immune System;Immune System;Metabolism;Biosynthesis of electrophilic ?-3 PUFA oxo-derivatives;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of E-series 18(R)-resolvins;Biosynthesis of EPA-derived SPMs;Biosynthesis of D-series resolvins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of maresins;Biosynthesis of DHA-derived SPMs;Biosynthesis of DPAn-3-derived protectins and resolvins;Biosynthesis of DPAn-3-derived 13-series resolvins;Biosynthesis of DPAn-3 SPMs;Biosynthesis of DPA-derived SPMs;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;Putative anti-Inflammatory metabolites formation from EPA;aspirin triggered resolvin E biosynthesis;leukotriene biosynthesis;aspirin triggered resolvin D biosynthesis;lipoxin biosynthesis;aspirin-triggered lipoxin biosynthesis;IL5;Biosynthesis of DPAn-3-derived maresins;Arachidonic acid metabolism;resolvin D biosynthesis
(Consensus)
Recessive Scores
- pRec
- 0.388
Intolerance Scores
- loftool
- 0.255
- rvis_EVS
- -0.95
- rvis_percentile_EVS
- 9.21
Haploinsufficiency Scores
- pHI
- 0.583
- hipred
- Y
- hipred_score
- 0.680
- ghis
- 0.536
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.970
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Alox5
- Phenotype
- hematopoietic system phenotype; immune system phenotype; skeleton phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- leukotriene production involved in inflammatory response;leukotriene metabolic process;cytokine-mediated signaling pathway;leukotriene biosynthetic process;lipoxygenase pathway;interleukin-18-mediated signaling pathway;long-chain fatty acid biosynthetic process;neutrophil degranulation;oxidation-reduction process
- Cellular component
- extracellular region;extracellular space;nuclear envelope;nuclear envelope lumen;nucleoplasm;cytosol;nuclear matrix;nuclear membrane;secretory granule lumen;ficolin-1-rich granule lumen
- Molecular function
- arachidonate 5-lipoxygenase activity;iron ion binding;protein binding