Epilepsy, juvenile absence, susceptibility to, 1
diseaseOn this page
Also known as EJA1epilepsy, juvenile absence, susceptibility to, type 1JAE1susceptibility to juvenile absence epilepsy 1
Summary
Epilepsy, juvenile absence, susceptibility to, 1 (MONDO:0020772) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | epilepsy, juvenile absence, susceptibility to, 1 |
| Mondo ID | MONDO:0020772 |
| OMIM | 607631 |
| DOID | DOID:0111324 |
| UMLS | C2750892 |
| MedGen | 413426 |
| Is cancer (heuristic) | no |
Also known as: EJA1 · EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 · epilepsy, juvenile absence, susceptibility to, type 1 · JAE1 · susceptibility to juvenile absence epilepsy 1
Data availability: 4 ClinVar variants.
Disease family
Classification path: disease susceptibility › inherited disease susceptibility › epilepsy, juvenile absence, susceptibility to › epilepsy, juvenile absence, susceptibility to, 1
Related subtypes (1): epilepsy, idiopathic generalized, susceptibility to, 11
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
4 retrieved; paginated sample, class counts are floors:
3 uncertain significance, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 205403 | NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) | EFHC1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3891408 | NM_018100.4(EFHC1):c.1406_1431dup (p.Thr478fs) | EFHC1 | Uncertain significance | criteria provided, single submitter |
| 4533280 | NM_018100.4(EFHC1):c.1307G>A (p.Arg436His) | EFHC1 | Uncertain significance | criteria provided, single submitter |
| 837595 | NM_018100.4(EFHC1):c.742A>G (p.Ile248Val) | EFHC1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| EFHC1 | Orphanet:1941 | Juvenile absence epilepsy |
| EFHC1 | Orphanet:307 | Juvenile myoclonic epilepsy |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| EFHC1 | HGNC:16406 | ENSG00000096093 | Q5JVL4 | EF-hand domain-containing protein 1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| EFHC1 | EF-hand domain-containing protein 1 | Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| EFHC1 | Other/Unknown | no | EF_hand_dom, DM10_dom, EF-hand-dom_pair |
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)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| bronchial epithelial cell | 1 |
| bronchus | 1 |
| epithelium of bronchus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| EFHC1 | 272 | ubiquitous | marker | bronchial epithelial cell, epithelium of bronchus, bronchus |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| EFHC1 | 2,470 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| EFHC1 | Q5JVL4 | 2 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).
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 term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cerebral cortex cell migration | 1 | 1532.0× | 0.002 | EFHC1 |
| cilium-dependent cell motility | 1 | 1404.3× | 0.002 | EFHC1 |
| regulation of cell division | 1 | 766.0× | 0.003 | EFHC1 |
| mitotic spindle organization | 1 | 271.8× | 0.005 | EFHC1 |
| mitotic cytokinesis | 1 | 259.3× | 0.005 | EFHC1 |
| flagellated sperm motility | 1 | 117.0× | 0.009 | EFHC1 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| EFHC1 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
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
0 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.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | EFHC1 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| EFHC1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: EFHC1