Adult spinal cord ependymoma

Summary

Adult spinal cord ependymoma (MONDO:0004361) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	adult spinal cord ependymoma
Mondo ID	MONDO:0004361
DOID	DOID:7788
NCIT	C27399
UMLS	C1332215
MedGen	231359
GARD	0023956
Is cancer (heuristic)	no

Also known as: adult spinal cord ependymoma · spinal cord ependymoma · spinal cord ependymoma of adults

Disease family

Classification path: disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › ependymal tumor › ependymoma › spinal cord ependymoma › adult spinal cord ependymoma

Related subtypes (1): spinal ependymoma, MYCN-amplified

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NF2	Orphanet:2495	Meningioma
NF2	Orphanet:634475	Mosaic NF2-related schwannomatosis
NF2	Orphanet:637	Full NF2-related schwannomatosis
NF2	Orphanet:93921	Full schwannomatosis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NF2	HGNC:7773	ENSG00000186575	P35240	Merlin	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NF2	Merlin	Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis.

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)
NF2	Other/Unknown	no		FERM_domain, Ez/rad/moesin-like, Moesin_tail_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
dorsal motor nucleus of vagus nerve	1
endometrium epithelium	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NF2	283	ubiquitous	marker	endometrium epithelium, stromal cell of endometrium, dorsal motor nucleus of vagus nerve

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NF2	3,208

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NF2	P35240	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 9. 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
RHO GTPases activate PAKs	1	543.8×	0.016	NF2
Fcgamma receptor (FCGR) dependent phagocytosis	1	278.5×	0.016	NF2
Regulation of actin dynamics for phagocytic cup formation	1	184.2×	0.016	NF2
RHO GTPase Effectors	1	68.0×	0.033	NF2
Signaling by Rho GTPases	1	34.2×	0.045	NF2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	33.5×	0.045	NF2
Innate Immune System	1	25.5×	0.050	NF2
Immune System	1	13.0×	0.087	NF2
Signal Transduction	1	10.2×	0.098	NF2

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
Schwann cell proliferation	1	5617.3×	0.002	NF2
regulation of gliogenesis	1	5617.3×	0.002	NF2
negative regulation of cell growth involved in contact inhibition	1	3370.4×	0.002	NF2
regulation of organelle assembly	1	3370.4×	0.002	NF2
negative regulation of Schwann cell proliferation	1	2407.4×	0.002	NF2
regulation of hippo signaling	1	2407.4×	0.002	NF2
regulation of protein localization to nucleus	1	2106.5×	0.002	NF2
positive regulation of early endosome to late endosome transport	1	1872.4×	0.002	NF2
positive regulation of protein localization to early endosome	1	1685.2×	0.002	NF2
regulation of neural precursor cell proliferation	1	1685.2×	0.002	NF2
negative regulation of osteoblast proliferation	1	1532.0×	0.002	NF2
osteoblast proliferation	1	1404.3×	0.002	NF2
regulation of stem cell proliferation	1	1404.3×	0.002	NF2
ectoderm development	1	1203.7×	0.002	NF2
lens fiber cell differentiation	1	1053.2×	0.002	NF2
negative regulation of cell-cell adhesion	1	991.3×	0.002	NF2
negative regulation of cell-matrix adhesion	1	887.0×	0.002	NF2
negative regulation of receptor signaling pathway via JAK-STAT	1	887.0×	0.002	NF2
hippo signaling	1	732.7×	0.002	NF2
cell-cell junction organization	1	624.1×	0.003	NF2
mesoderm formation	1	495.6×	0.003	NF2
positive regulation of stress fiber assembly	1	312.1×	0.005	NF2
odontogenesis of dentin-containing tooth	1	300.9×	0.005	NF2
negative regulation of MAPK cascade	1	300.9×	0.005	NF2
positive regulation of cell differentiation	1	267.5×	0.005	NF2
hippocampus development	1	230.8×	0.006	NF2
MAPK cascade	1	153.2×	0.008	NF2
regulation of protein stability	1	125.8×	0.010	NF2
regulation of cell shape	1	123.0×	0.010	NF2
negative regulation of cell migration	1	111.6×	0.010	NF2

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
NF2	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	NF2

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)
NF2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.