Febrile seizures, familial, 11
disease diseaseOn this page
Also known as FEB11
Summary
Febrile seizures, familial, 11 (MONDO:0024566) is a disease with 2 cohort genes.
At a glance
- Cohort genes: 2
- ClinVar variants: 138
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | febrile seizures, familial, 11 |
| Mondo ID | MONDO:0024566 |
| OMIM | 614418 |
| DOID | DOID:0111308 |
| UMLS | C3280734 |
| MedGen | 482364 |
| GARD | 0018283 |
| Is cancer (heuristic) | no |
Also known as: FEB11 · febrile seizures, familial, 11
Data availability: 138 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › febrile seizures, familial › febrile seizures, familial, 11
Related subtypes (12): febrile seizures, familial, 1, febrile seizures, familial, 2, febrile seizures, familial, 4, generalized epilepsy with febrile seizures plus, type 2, febrile seizures, familial, 8, febrile seizures, familial, 6, febrile seizures, familial, 5, febrile seizures, familial, 7, familial febrile seizures 9, febrile seizures, familial, 10, febrile seizures, familial, 3a, febrile seizures, familial, 3b
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
138 retrieved; paginated sample, class counts are floors:
82 uncertain significance, 29 likely benign, 17 conflicting classifications of pathogenicity, 6 benign, 3 benign/likely benign, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4813838 | NM_020361.5(CPA6):c.230C>G (p.Ser77Ter) | CPA6 | Likely pathogenic | criteria provided, single submitter |
| 1138982 | NM_020361.5(CPA6):c.748-1G>A | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 281269 | NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 30791 | NM_020361.5(CPA6):c.809C>T (p.Ala270Val) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 363605 | NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 434821 | NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 444756 | NM_020361.5(CPA6):c.1026C>G (p.Pro342=) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 472765 | NM_020361.5(CPA6):c.916G>A (p.Val306Ile) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 539979 | NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 597708 | NM_020361.5(CPA6):c.903G>A (p.Pro301=) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 774243 | NM_020361.5(CPA6):c.920C>T (p.Ala307Val) | ARFGEF1-DT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1325821 | NM_020361.5(CPA6):c.107G>A (p.Arg36His) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 193427 | NM_020361.5(CPA6):c.54del (p.Trp19fs) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 286723 | NM_020361.5(CPA6):c.61T>A (p.Phe21Ile) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 363610 | NM_020361.5(CPA6):c.505T>C (p.Tyr169His) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 363614 | NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 393467 | NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 998625 | NM_020361.5(CPA6):c.106C>T (p.Arg36Cys) | CPA6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1004527 | NM_020361.5(CPA6):c.1298T>G (p.Leu433Arg) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1006154 | NM_020361.5(CPA6):c.747+4A>G | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 1007855 | NM_020361.5(CPA6):c.1027A>G (p.Asn343Asp) | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 1011400 | NM_020361.5(CPA6):c.1039G>C (p.Val347Leu) | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 1014419 | NM_020361.5(CPA6):c.748-3T>C | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 1047776 | NM_020361.5(CPA6):c.786G>T (p.Arg262Ser) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1051585 | NM_020361.5(CPA6):c.688C>G (p.Leu230Val) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1056242 | NM_020361.5(CPA6):c.676dup (p.Met226fs) | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 1377539 | NM_020361.5(CPA6):c.1111G>A (p.Ala371Thr) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1425332 | NM_020361.5(CPA6):c.650A>G (p.Tyr217Cys) | ARFGEF1-DT | Uncertain significance | criteria provided, single submitter |
| 363599 | NM_020361.5(CPA6):c.1288A>G (p.Met430Val) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 363604 | NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) | ARFGEF1-DT | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 2 · 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.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| CPA6 | Supportive | Autosomal dominant | familial mesial temporal lobe epilepsy with febrile seizures | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CPA6 | Orphanet:163717 | Familial mesial temporal lobe epilepsy |
| CPA6 | Orphanet:36387 | Genetic epilepsy with febrile seizure plus |
Cohort genes → proteins
2 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| CPA6 | HGNC:17245 | ENSG00000165078 | Q8N4T0 | Carboxypeptidase A6 | gencc,clinvar |
| ARFGEF1-DT | HGNC:55237 | ENSG00000271966 | ARFGEF1 divergent transcript | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CPA6 | Carboxypeptidase A6 | May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
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 |
|---|---|---|---|
| Protease | 1 | 18.3× | 0.108 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CPA6 | Protease | yes | Peptidase_M14, M14A_act_pep, CPAH | |
| ARFGEF1-DT | Other/Unknown | no |
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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| buccal mucosa cell | 1 |
| mucosa of transverse colon | 1 |
| urethra | 1 |
| bone marrow | 1 |
| bone marrow cell | 1 |
| ganglionic eminence | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CPA6 | 103 | broad | marker | buccal mucosa cell, mucosa of transverse colon, urethra |
| ARFGEF1-DT | 127 | yes | bone marrow cell, bone marrow, ganglionic eminence |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CPA6 | 605 |
| ARFGEF1-DT | 0 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 1
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| CPA6 | Q8N4T0 | 90.93 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 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 |
|---|---|---|---|---|
| proteolysis | 1 | 34.2× | 0.029 | CPA6 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 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 |
|---|---|---|
| CPA6 | 0 | 0 |
| ARFGEF1-DT | 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 | 1 | CPA6 |
| E | Difficult family or no structure, no drug | 1 | ARFGEF1-DT |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| CPA6 | 0 | — |
| ARFGEF1-DT | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: CPA6, ARFGEF1-DT