Developmental and epileptic encephalopathy 120

disease

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Summary

Developmental and epileptic encephalopathy 120 (MONDO:0980948) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	developmental and epileptic encephalopathy 120
Mondo ID	MONDO:0980948
OMIM	621468
Is cancer (heuristic)	no

Data availability: 7 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › Mendelian neurodevelopmental disorder › genetic developmental and epileptic encephalopathy › developmental and epileptic encephalopathy 120

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

7 retrieved; paginated sample, class counts are floors:

7 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4685564	BAIAP2, ARG29TRP	BAIAP2	Pathogenic	no assertion criteria provided
4685565	NM_001144888.2(BAIAP2):c.1088G>A (p.Arg363His)	BAIAP2	Pathogenic	no assertion criteria provided
4685566	NM_001144888.2(BAIAP2):c.1019C>A (p.Thr340Lys)	BAIAP2	Pathogenic	no assertion criteria provided
4685567	NM_001144888.2(BAIAP2):c.1018A>G (p.Thr340Ala)	BAIAP2	Pathogenic	no assertion criteria provided
4685568	NM_001144888.2(BAIAP2):c.566A>T (p.Glu189Val)	BAIAP2	Pathogenic	no assertion criteria provided
4685569	NM_001144888.2(BAIAP2):c.1019C>T (p.Thr340Ile)	BAIAP2	Pathogenic	no assertion criteria provided
4685570	NM_001144888.2(BAIAP2):c.1024C>G (p.Pro342Ala)	BAIAP2	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
BAIAP2	HGNC:947	ENSG00000175866	Q9UQB8	BAR/IMD domain-containing adapter protein 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BAIAP2	BAR/IMD domain-containing adapter protein 2	Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BAIAP2	Transcription factor	no		SH3_domain, I-BAR_dom, AH/BAR_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)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 10	1
frontal pole	1
lower esophagus mucosa	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BAIAP2	256	ubiquitous	marker	Brodmann (1909) area 10, frontal pole, lower esophagus mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BAIAP2	2,364

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BAIAP2	Q9UQB8	12

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 23. 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.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Parasite infection	1	346.1×	0.016	BAIAP2
Leishmania phagocytosis	1	346.1×	0.016	BAIAP2
RHO GTPases Activate WASPs and WAVEs	1	317.2×	0.016	BAIAP2
Fcgamma receptor (FCGR) dependent phagocytosis	1	278.5×	0.016	BAIAP2
Signaling by VEGF	1	219.6×	0.016	BAIAP2
FCGR3A-mediated phagocytosis	1	187.2×	0.016	BAIAP2
Regulation of actin dynamics for phagocytic cup formation	1	184.2×	0.016	BAIAP2
Leishmania infection	1	163.1×	0.016	BAIAP2
Parasitic Infection Pathways	1	163.1×	0.016	BAIAP2
VEGFA-VEGFR2 Pathway	1	139.3×	0.017	BAIAP2
RAC3 GTPase cycle	1	119.0×	0.018	BAIAP2
CDC42 GTPase cycle	1	72.3×	0.026	BAIAP2
RHO GTPase Effectors	1	68.0×	0.026	BAIAP2
RAC1 GTPase cycle	1	61.1×	0.026	BAIAP2
RHO GTPase cycle	1	60.1×	0.026	BAIAP2
Signaling by Receptor Tyrosine Kinases	1	51.7×	0.028	BAIAP2
Signaling by Rho GTPases	1	34.2×	0.038	BAIAP2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	33.5×	0.038	BAIAP2
Innate Immune System	1	25.5×	0.046	BAIAP2
Infectious disease	1	24.8×	0.046	BAIAP2
Disease	1	13.1×	0.081	BAIAP2
Immune System	1	13.0×	0.081	BAIAP2
Signal Transduction	1	10.2×	0.098	BAIAP2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of modification of postsynaptic actin cytoskeleton	1	2407.4×	0.003	BAIAP2
cellular response to L-glutamate	1	1685.2×	0.003	BAIAP2
actin crosslink formation	1	1203.7×	0.003	BAIAP2
plasma membrane organization	1	887.0×	0.003	BAIAP2
positive regulation of dendritic spine morphogenesis	1	887.0×	0.003	BAIAP2
protein localization to synapse	1	766.0×	0.003	BAIAP2
positive regulation of excitatory postsynaptic potential	1	526.6×	0.004	BAIAP2
actin filament bundle assembly	1	455.5×	0.004	BAIAP2
dendrite development	1	391.9×	0.005	BAIAP2
positive regulation of actin filament polymerization	1	330.4×	0.005	BAIAP2
cellular response to epidermal growth factor stimulus	1	318.0×	0.005	BAIAP2
regulation of synaptic plasticity	1	259.3×	0.005	BAIAP2
insulin receptor signaling pathway	1	221.7×	0.006	BAIAP2
axonogenesis	1	160.5×	0.007	BAIAP2
regulation of actin cytoskeleton organization	1	157.5×	0.007	BAIAP2
regulation of cell shape	1	123.0×	0.008	BAIAP2

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
BAIAP2	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	BAIAP2

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)
BAIAP2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: BAIAP2