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Atlas / Disease / Asthma-related traits, susceptibility to, 5

Asthma-related traits, susceptibility to, 5

disease
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Also known as ASRT5asthma susceptibility 5asthma-related traits, susceptibility to, type 5inherited susceptibility to asthma caused by mutation in IRAK3IRAK3 inherited susceptibility to asthma

Summary

Asthma-related traits, susceptibility to, 5 (MONDO:0012607) is a disease with 1 cohort gene.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameasthma-related traits, susceptibility to, 5
Mondo IDMONDO:0012607
OMIM611064
UMLSC1970224
MedGen370858
Is cancer (heuristic)no

Also known as: ASRT5 · asthma susceptibility 5 · asthma-related traits, susceptibility to, 5 · asthma-related traits, susceptibility to, type 5 · inherited susceptibility to asthma caused by mutation in IRAK3 · IRAK3 inherited susceptibility to asthma

Data availability: 2 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma › asthma-related traits, susceptibility to, 5

Related subtypes (8): asthma-related traits, susceptibility to, 1, asthma-related traits, susceptibility to, 2, asthma-related traits, susceptibility to, 3, asthma-related traits, susceptibility to, 4, asthma-related traits, susceptibility to, 6, asthma-related traits, susceptibility to, 7, asthma-related traits, susceptibility to, 8, asthma, aspirin-induced, susceptibility to

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

2 risk factor

ClinVarVariant (HGVS)GeneClassificationReview
5535NM_007199.3(IRAK3):c.227G>A (p.Trp76Ter)IRAK3risk factorno assertion criteria provided
5536NM_007199.3(IRAK3):c.381+1G>TIRAK3risk factorno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
IRAK3LimitedAutosomal dominantasthma-related traits, susceptibility to, 5

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
IRAK3HGNC:17020ENSG00000090376Q9Y616Interleukin-1 receptor-associated kinase 3gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
IRAK3Interleukin-1 receptor-associated kinase 3Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
IRAK3KinaseyesDeath_dom, Prot_kinase_dom, Kinase-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
leukocyte1
monocyte1
mononuclear cell1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
IRAK3238ubiquitousmarkermonocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
IRAK32,390

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
IRAK3Q9Y6163

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Interleukin-1 family signaling1271.9×0.012IRAK3
Toll Like Receptor TLR6:TLR2 Cascade1175.7×0.012IRAK3
Toll Like Receptor 2 (TLR2) Cascade1173.0×0.012IRAK3
Toll Like Receptor TLR1:TLR2 Cascade1167.9×0.012IRAK3
MyD88:MAL(TIRAP) cascade initiated on plasma membrane1152.3×0.012IRAK3
Toll Like Receptor 4 (TLR4) Cascade1131.3×0.012IRAK3
Toll-like Receptor Cascades1124.1×0.012IRAK3
Interleukin-1 signaling1124.1×0.012IRAK3
Signaling by Interleukins164.2×0.021IRAK3
Cytokine Signaling in Immune system140.8×0.029IRAK3
Innate Immune System125.5×0.043IRAK3
Immune System113.0×0.077IRAK3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
positive regulation of macrophage tolerance induction116852.0×8e-04IRAK3
regulation of protein-containing complex disassembly116852.0×8e-04IRAK3
negative regulation of protein-containing complex disassembly14213.0×0.002IRAK3
Toll signaling pathway12407.4×0.002IRAK3
response to peptidoglycan12407.4×0.002IRAK3
negative regulation of cytokine-mediated signaling pathway11872.4×0.002IRAK3
negative regulation of macrophage cytokine production11203.7×0.003IRAK3
negative regulation of interleukin-12 production11053.2×0.003IRAK3
MyD88-dependent toll-like receptor signaling pathway1936.2×0.003IRAK3
negative regulation of toll-like receptor signaling pathway1842.6×0.003IRAK3
interleukin-1-mediated signaling pathway1802.5×0.003IRAK3
lipopolysaccharide-mediated signaling pathway1526.6×0.004IRAK3
response to exogenous dsRNA1526.6×0.004IRAK3
negative regulation of innate immune response1510.7×0.004IRAK3
response to interleukin-11510.7×0.004IRAK3
negative regulation of protein catabolic process1366.4×0.005IRAK3
negative regulation of interleukin-6 production1351.1×0.005IRAK3
negative regulation of MAPK cascade1300.9×0.005IRAK3
positive regulation of cytokine production1271.8×0.005IRAK3
negative regulation of tumor necrosis factor production1251.5×0.005IRAK3
negative regulation of canonical NF-kappaB signal transduction1172.0×0.007IRAK3
response to virus1144.0×0.009IRAK3
cytokine-mediated signaling pathway1130.6×0.009IRAK3
response to lipopolysaccharide1124.8×0.009IRAK3
positive regulation of canonical NF-kappaB signal transduction172.6×0.015IRAK3
protein phosphorylation168.0×0.015IRAK3
intracellular signal transduction138.1×0.026IRAK3

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
IRAK3FEDRATINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
IRAK3354

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
FEDRATINIB4IRAK3
PACRITINIB4IRAK3
FOSTAMATINIB4IRAK3
GILTERITINIB4IRAK3
PAZOPANIB4IRAK3
NINTEDANIB4IRAK3
SUNITINIB4IRAK3
CRIZOTINIB4IRAK3
MIDOSTAURIN4IRAK3
GEFITINIB4IRAK3
CRENOLANIB3IRAK3
CANERTINIB3IRAK3
LESTAURTINIB3IRAK3
FORETINIB2IRAK3
OMIPALISIB2IRAK3
TANDUTINIB2IRAK3
SU-0148132IRAK3
MK-24612IRAK3
ZOTIRACICLIB2IRAK3
DEFOSBARASERTIB2IRAK3
R-4062IRAK3
PICTILISIB2IRAK3
MILCICLIB2IRAK3
TOZASERTIB2IRAK3
GSK-4613641IRAK3
KW-24491IRAK3
SGI-17761IRAK3
MLN-80541IRAK3
BMS-3870321IRAK3
TAK-9011IRAK3

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
IRAK3147Binding:147

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
IRAK3147

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
FEDRATINIB4IRAK3
PACRITINIB4IRAK3
FOSTAMATINIB4IRAK3
GILTERITINIB4IRAK3
PAZOPANIB4IRAK3
NINTEDANIB4IRAK3
SUNITINIB4IRAK3
CRIZOTINIB4IRAK3
MIDOSTAURIN4IRAK3
GEFITINIB4IRAK3
CRENOLANIB3IRAK3
CANERTINIB3IRAK3
LESTAURTINIB3IRAK3
FORETINIB2IRAK3
OMIPALISIB2IRAK3
TANDUTINIB2IRAK3
SU-0148132IRAK3
MK-24612IRAK3
ZOTIRACICLIB2IRAK3
DEFOSBARASERTIB2IRAK3
R-4062IRAK3
PICTILISIB2IRAK3
MILCICLIB2IRAK3
TOZASERTIB2IRAK3
GSK-4613641IRAK3
KW-24491IRAK3
SGI-17761IRAK3
MLN-80541IRAK3
BMS-3870321IRAK3
TAK-9011IRAK3

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1IRAK3
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 67

This page pulls from 67 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot