Ependymoma

Summary

Ependymoma (MONDO:0016698) is a disease (an umbrella term covering 8 Mondo subtypes) with 37 cohort genes and 95 clinical trials. Top therapeutic interventions include carboplatin, larotrectinib, and selumetinib.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Umbrella term: 8 Mondo subtypes
• Cohort genes: 37
• ClinVar variants: 37
• Phenotypes (HPO): 15
• Clinical trials: 95

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.16	Europe	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0002888	Ependymoma	Obligate (100%)
HP:0002076	Migraine	Frequent (30-79%)
HP:0012531	Pain	Frequent (30-79%)
HP:0025461	Abnormal cell morphology	Frequent (30-79%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002460	Distal muscle weakness	Occasional (5-29%)
HP:0010302	Spinal cord tumor	Occasional (5-29%)
HP:0012534	Dysesthesia	Occasional (5-29%)
HP:0030693	Supratentorial neoplasm	Occasional (5-29%)
HP:0002896	Neoplasm of the liver	Very rare (<1-4%)
HP:0100013	Neoplasm of the breast	Very rare (<1-4%)
HP:0100526	Neoplasm of the lung	Very rare (<1-4%)
HP:0100615	Ovarian neoplasm	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	ependymoma
Mondo ID	MONDO:0016698
EFO	EFO:1000028
MeSH	D004806
Orphanet	251636
DOID	DOID:4844
NCIT	C3017
UMLS	C0014474
MedGen	41825
GARD	0006353
MedDRA	10014967
Is cancer (heuristic)	no

Also known as: benign ependymoma · clear cell ependymoma (histologic variant) · ependymoma · ependymoma, benign · ependymoma, familial · papillary ependymoma (histologic variant) · tanycytic ependymoma (histologic variant) · WHO grade II ependymal neoplasm · WHO grade II ependymal tumor · WHO grade II ependymal tumour

Data availability: 37 ClinVar variants · 12 cell lines · 1 intOGen driver record.

Disease family

An umbrella term covering 8 Mondo subtypes.

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

Related subtypes (5): ependymal tumor of brain, myxopapillary ependymoma, anaplastic ependymoma, ependymal tumor of spinal cord, RELA fusion-positive ependymoma

Subtypes (8): cellular ependymoma, spinal cord ependymoma, tanycytic ependymoma, papillary ependymoma, clear cell ependymoma, brain stem ependymoma, childhood ependymoma, low grade ependymoma

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

37 retrieved; paginated sample, class counts are floors:

32 uncertain significance, 2 conflicting classifications of pathogenicity, 1 pathogenic, 1 likely pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
487778	NM_001370259.2(MEN1):c.696dup (p.Lys233fs)	MEN1	Pathogenic	no assertion criteria provided
5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
487796	NM_000268.4(NF2):c.551G>A (p.Trp184Ter)	NF2	Likely pathogenic	no assertion criteria provided
565544	NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	MSH2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
620604	NM_020975.6(RET):c.1202G>A (p.Ser401Asn)	RET	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
487806	NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs)	ADGRA2	Uncertain significance	no assertion criteria provided
487793	NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser)	ARHGAP32	Uncertain significance	no assertion criteria provided
487782	NM_001386991.1(BANP):c.692A>G (p.Asn231Ser)	BANP	Uncertain significance	no assertion criteria provided
487807	NM_006078.5(CACNG2):c.541T>C (p.Tyr181His)	CACNG2	Uncertain significance	no assertion criteria provided
487789	NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter)	DEPDC5	Uncertain significance	no assertion criteria provided
487803	NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro)	GLB1	Uncertain significance	no assertion criteria provided
487779	NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp)	GON4L	Uncertain significance	no assertion criteria provided
487780	NM_003883.4(HDAC3):c.50_55+5del	HDAC3	Uncertain significance	no assertion criteria provided
487802	NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln)	HSD3B2	Uncertain significance	no assertion criteria provided
487787	NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu)	KAT6B	Uncertain significance	no assertion criteria provided
487795	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)	KLHL21	Uncertain significance	no assertion criteria provided
487788	NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val)	KREMEN2	Uncertain significance	no assertion criteria provided
487797	NM_004690.4(LATS1):c.2365G>C (p.Asp789His)	LATS1	Uncertain significance	no assertion criteria provided
487800	NM_012318.3(LETM1):c.286G>A (p.Val96Met)	LETM1	Uncertain significance	no assertion criteria provided
487798	NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser)	MAP4K3	Uncertain significance	no assertion criteria provided
487804	NC_012920.1(MT-ND4):m.11038del	MT-ND4	Uncertain significance	no assertion criteria provided
487790	NM_001047160.3(NET1):c.498G>T (p.Glu166Asp)	NET1	Uncertain significance	no assertion criteria provided
487794	NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr)	OTUD5	Uncertain significance	no assertion criteria provided
487786	NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr)	PATZ1	Uncertain significance	no assertion criteria provided
487785	NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu)	POU3F4	Uncertain significance	no assertion criteria provided
1745092	NM_002878.4(RAD51D):c.505G>A (p.Val169Met)	RAD51L3-RFFL	Uncertain significance	criteria provided, multiple submitters, no conflicts
487781	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)	SETD9	Uncertain significance	no assertion criteria provided
487808	NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs)	SH3TC2	Uncertain significance	no assertion criteria provided
487809	NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe)	SLC39A11	Uncertain significance	no assertion criteria provided
487791	NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys)	SPRY3	Uncertain significance	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 54 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC6A2	Orphanet:443236	Postural orthostatic tachycardia syndrome due to NET deficiency
TRAF3	Orphanet:1930	Herpes simplex virus encephalitis
CACNG2	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
SYNE1	Orphanet:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1	Orphanet:88644	Autosomal recessive ataxia, Beauce type
SYNE1	Orphanet:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy
KAT6B	Orphanet:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type
KAT6B	Orphanet:85201	Genitopatellar syndrome
TXNRD2	Orphanet:154	Familial isolated dilated cardiomyopathy
TXNRD2	Orphanet:361	Familial glucocorticoid deficiency
DEPDC5	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
DEPDC5	Orphanet:98784	Sleep-related hypermotor epilepsy
DEPDC5	Orphanet:98820	Familial focal epilepsy with variable foci
OTUD5	Orphanet:528084	Non-specific syndromic intellectual disability
SH3TC2	Orphanet:99949	Charcot-Marie-Tooth disease type 4C
GLB1	Orphanet:309310	Mucopolysaccharidosis type 4B
GLB1	Orphanet:79255	GM1 gangliosidosis type 1
GLB1	Orphanet:79256	GM1 gangliosidosis type 2
GLB1	Orphanet:79257	GM1 gangliosidosis type 3
HSD3B2	Orphanet:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
LETM1	Orphanet:280	Wolf-Hirschhorn syndrome
MEN1	Orphanet:2965	Prolactinoma
MEN1	Orphanet:314786	Silent pituitary adenoma
MEN1	Orphanet:314790	Null pituitary adenoma
MEN1	Orphanet:652	Multiple endocrine neoplasia type 1
MEN1	Orphanet:97279	Insulinoma
MEN1	Orphanet:99725	Pituitary gigantism
MEN1	Orphanet:99879	Familial isolated hyperparathyroidism
TRPM1	Orphanet:714079	Complete congenital stationary night blindness, Schubert-Bornschein type
MSH2	Orphanet:144	Lynch syndrome
MSH2	Orphanet:252202	Constitutional mismatch repair deficiency syndrome
MT-ND4	Orphanet:104	Leber hereditary optic neuropathy
MT-ND4	Orphanet:255210	Mitochondrial DNA-associated Leigh syndrome
MT-ND4	Orphanet:550	MELAS
MT-ND4	Orphanet:90641	Rare mitochondrial non-syndromic sensorineural deafness
MT-ND4	Orphanet:99718	Leber plus disease
MUTYH	Orphanet:247798	MUTYH-related polyposis
MUTYH	Orphanet:440437	Familial colorectal cancer Type X
NF2	Orphanet:2495	Meningioma
NF2	Orphanet:634475	Mosaic NF2-related schwannomatosis
NF2	Orphanet:637	Full NF2-related schwannomatosis
NF2	Orphanet:93921	Full schwannomatosis
POU3F4	Orphanet:1435	Xq21 microdeletion syndrome
POU3F4	Orphanet:90641	Rare mitochondrial non-syndromic sensorineural deafness
RET	Orphanet:146	Differentiated thyroid carcinoma
RET	Orphanet:1848	Renal agenesis, bilateral
RET	Orphanet:247698	Multiple endocrine neoplasia type 2A
RET	Orphanet:247709	Multiple endocrine neoplasia type 2B
RET	Orphanet:276621	Sporadic pheochromocytoma/secreting paraganglioma
RET	Orphanet:29072	Hereditary pheochromocytoma-paraganglioma

Cohort genes → proteins

37 cohort genes, 37 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	37

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC6A2	HGNC:11048	ENSG00000103546	P23975	Sodium-dependent noradrenaline transporter	clinvar
SPRY3	HGNC:11271	ENSG00000168939	O43610	Protein sprouty homolog 3	clinvar
SUV39H1	HGNC:11479	ENSG00000101945	O43463	Histone-lysine N-methyltransferase SUV39H1	clinvar
TRAF3	HGNC:12033	ENSG00000131323	Q13114	TNF receptor-associated factor 3	clinvar
VBP1	HGNC:12662	ENSG00000155959	P61758	Prefoldin subunit 3	clinvar
PATZ1	HGNC:13071	ENSG00000100105	Q9HBE1	POZ-, AT hook-, and zinc finger-containing protein 1	clinvar
BANP	HGNC:13450	ENSG00000172530	Q8N9N5	Protein BANP	clinvar
CACNG2	HGNC:1406	ENSG00000166862	Q9Y698	Voltage-dependent calcium channel gamma-2 subunit	clinvar
SLC39A11	HGNC:14463	ENSG00000133195	Q8N1S5	Zinc transporter ZIP11	clinvar
NET1	HGNC:14592	ENSG00000173848	Q7Z628	Neuroepithelial cell-transforming gene 1 protein	clinvar
SYNE1	HGNC:17089	ENSG00000131018	Q8NF91	Nesprin-1	clinvar
ARHGAP32	HGNC:17399	ENSG00000134909	A7KAX9	Rho GTPase-activating protein 32	clinvar
KAT6B	HGNC:17582	ENSG00000156650	Q8WYB5	Histone acetyltransferase KAT6B	clinvar
ADGRA2	HGNC:17849	ENSG00000020181	Q96PE1	Adhesion G protein-coupled receptor A2	clinvar
TXNRD2	HGNC:18155	ENSG00000184470	Q9NNW7	Thioredoxin reductase 2, mitochondrial	clinvar
DEPDC5	HGNC:18423	ENSG00000100150	O75140	GATOR1 complex protein DEPDC5	clinvar
KREMEN2	HGNC:18797	ENSG00000131650	Q8NCW0	Kremen protein 2	clinvar
OTUD5	HGNC:25402	ENSG00000068308	Q96G74	OTU domain-containing protein 5	clinvar
GON4L	HGNC:25973	ENSG00000116580	Q3T8J9	GON-4-like protein	clinvar
SETD9	HGNC:28508	ENSG00000155542	Q8NE22	SET domain-containing protein 9	clinvar
KLHL21	HGNC:29041	ENSG00000162413	Q9UJP4	Kelch-like protein 21	clinvar
SH3TC2	HGNC:29427	ENSG00000169247	Q8TF17	SH3 domain and tetratricopeptide repeat-containing protein 2	clinvar
TASOR	HGNC:30314	ENSG00000163946	Q9UK61	Protein TASOR	clinvar
GLB1	HGNC:4298	ENSG00000170266	P16278	Beta-galactosidase	clinvar
HDAC3	HGNC:4854	ENSG00000171720	O15379	Histone deacetylase 3	clinvar
HSD3B2	HGNC:5218	ENSG00000203859	P26439	3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type 2	clinvar
LATS1	HGNC:6514	ENSG00000131023	O95835	Serine/threonine-protein kinase LATS1	clinvar
LETM1	HGNC:6556	ENSG00000168924	O95202	Mitochondrial proton/calcium exchanger protein	clinvar
MAP4K3	HGNC:6865	ENSG00000011566	Q8IVH8	Mitogen-activated protein kinase kinase kinase kinase 3	clinvar
MEN1	HGNC:7010	ENSG00000133895	O00255	Menin	clinvar
TRPM1	HGNC:7146	ENSG00000134160	Q7Z4N2	Transient receptor potential cation channel subfamily M member 1	clinvar
MSH2	HGNC:7325	ENSG00000095002	P43246	DNA mismatch repair protein Msh2	clinvar
MT-ND4	HGNC:7459	ENSG00000198886	C0HME5	Mitochondrial alternative ND4 protein	clinvar
MUTYH	HGNC:7527	ENSG00000132781	Q9UIF7	Adenine DNA glycosylase	clinvar
NF2	HGNC:7773	ENSG00000186575	P35240	Merlin	clinvar
POU3F4	HGNC:9217	ENSG00000196767	P49335	POU domain, class 3, transcription factor 4	clinvar
RET	HGNC:9967	ENSG00000165731	P07949	Proto-oncogene tyrosine-protein kinase receptor Ret	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC6A2	Sodium-dependent noradrenaline transporter	Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signaling neurotransmitter in the autonomic sympathetic nervous system.
SPRY3	Protein sprouty homolog 3	Inhibits neurite branching, arbor length and neurite complexity.
SUV39H1	Histone-lysine N-methyltransferase SUV39H1	Histone methyltransferase that specifically mediates trimethylation of ‘Lys-9’ of histone H3 (H3K9me3) using monomethylated H3 ‘Lys-9’ (H3K9me1) as substrate.
TRAF3	TNF receptor-associated factor 3	Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in…
VBP1	Prefoldin subunit 3	Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it.
PATZ1	POZ-, AT hook-, and zinc finger-containing protein 1	Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis.
BANP	Protein BANP	Controls V(D)J recombination during T-cell development by repressing T-cell receptor (TCR) beta enhancer function.
CACNG2	Voltage-dependent calcium channel gamma-2 subunit	Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs).
SLC39A11	Zinc transporter ZIP11	Zinc importer that regulates cytosolic zinc concentrations either via zinc influx from the extracellular compartment or efflux from intracellular organelles such as Golgi apparatus.
NET1	Neuroepithelial cell-transforming gene 1 protein	Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase.
SYNE1	Nesprin-1	Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization.
ARHGAP32	Rho GTPase-activating protein 32	GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases.
KAT6B	Histone acetyltransferase KAT6B	Histone acetyltransferase which may be involved in both positive and negative regulation of transcription.
ADGRA2	Adhesion G protein-coupled receptor A2	Endothelial receptor which functions together with RECK to enable brain endothelial cells to selectively respond to Wnt7 signals (WNT7A or WNT7B).
TXNRD2	Thioredoxin reductase 2, mitochondrial	Involved in the control of reactive oxygen species levels and the regulation of mitochondrial redox homeostasis.
DEPDC5	GATOR1 complex protein DEPDC5	As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway.
KREMEN2	Kremen protein 2	Receptor for Dickkopf proteins.
OTUD5	OTU domain-containing protein 5	Deubiquitinating enzyme that functions as a negative regulator of the innate immune system.
GON4L	GON-4-like protein	Acts as a key transcription regulator of histones.
KLHL21	Kelch-like protein 21	Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for efficient chromosome alignment and cytokinesis.
SH3TC2	SH3 domain and tetratricopeptide repeat-containing protein 2	Is involved in nerve myelination and is required for the integrity of nodes of Ranvier.
TASOR	Protein TASOR	Core component of the HUSH complex, a multiprotein complex that specifically mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements.
GLB1	Beta-galactosidase	Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.
HDAC3	Histone deacetylase 3	Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates.
HSD3B2	3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type 2	3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids.
LATS1	Serine/threonine-protein kinase LATS1	Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.
LETM1	Mitochondrial proton/calcium exchanger protein	Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport.
MAP4K3	Mitogen-activated protein kinase kinase kinase kinase 3	Serine/threonine kinase that plays a role in the response to environmental stress.
MEN1	Menin	Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates ‘Lys-4’ of histone H3 (H3K4).
TRPM1	Transient receptor potential cation channel subfamily M member 1	Constitutively open nonselective divalent cation-conducting channels which mediate the influx of Ca(2+), Mg(2+), Mn(2+), Ba(2+), and Ni(2+) into the cytoplasm, leading to membrane depolarization.
MSH2	DNA mismatch repair protein Msh2	Component of the post-replicative DNA mismatch repair system (MMR).
MT-ND4	Mitochondrial alternative ND4 protein	Regulates mitochondrial respiration by decreasing oxygen consumption.
MUTYH	Adenine DNA glycosylase	Involved in oxidative DNA damage repair.
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.
POU3F4	POU domain, class 3, transcription factor 4	Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.
RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN,…

Protein-family classification

Druggable: 10 · Difficult: 8 · Unknown: 19 · Druggable fraction: 0.27

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
Ion channel	1	3.0×	0.745
Kinase	3	2.2×	0.745
Scaffold/PPI	3	1.4×	0.745
Enzyme (other)	4	1.3×	0.745
Transcription factor	5	1.1×	0.752
Protease	1	1.0×	0.794
Other/Unknown	19	0.9×	0.794
GPCR	1	0.7×	0.794

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC6A2	Other/Unknown	no		Na/ntran_symport, Na/ntran_symport_noradrenaline, SNS_sf
SPRY3	Other/Unknown	no		Sprouty, Sprouty_domain
SUV39H1	Enzyme (other)	yes	2.1.1.355	Chromo/chromo_shadow_dom, SET_dom, Post-SET_dom
TRAF3	Transcription factor	no		Znf_TRAF, Znf_RING, MATH/TRAF_dom
VBP1	Other/Unknown	no		Prefoldin_subunit_alpha, Prefoldin, PFD3
PATZ1	Transcription factor	no		BTB/POZ_dom, HMGI/Y_DNA-bd_CS, SKP1/BTB/POZ_sf
BANP	Other/Unknown	no		BEN_domain, BANP
CACNG2	Other/Unknown	no		PMP22/EMP/MP20/Claudin, VDCC_g2su, VDCC_gsu
SLC39A11	Other/Unknown	no		ZIP
NET1	Scaffold/PPI	no		DH_dom, GDS_CDC24_CS, PH_domain
SYNE1	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
ARHGAP32	Scaffold/PPI	no		RhoGAP_dom, SH3_domain, Rho_GTPase_activation_prot
KAT6B	Transcription factor	no	2.3.1.48	Znf_PHD, HAT_MYST-type, Histone_H1/H5_H15
ADGRA2	GPCR	yes		GPS, Cys-rich_flank_reg_C, GPCR_2_secretin-like
TXNRD2	Enzyme (other)	yes	1.8.1.9	Pyr_nuc-diS_OxRdtase, Pyr_nucl-diS_OxRdtase_dimer, Thioredoxin/glutathione_Rdtase
DEPDC5	Other/Unknown	no		DEP_dom, IML1, WH-like_DNA-bd_sf
KREMEN2	Other/Unknown	no		Kringle, CUB_dom, WSC_carb-bd
OTUD5	Protease	yes		OTU_dom, Papain-like_cys_pep_sf, Peptidase_C85-like
GON4L	Transcription factor	no		SANT/Myb, PAH, Homeodomain-like_sf
SETD9	Other/Unknown	no		SET_dom, SETD9, SET_dom_sf
KLHL21	Other/Unknown	no		BTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
SH3TC2	Scaffold/PPI	no		SH3_domain, TPR-like_helical_dom_sf, TPR_rpt
TASOR	Other/Unknown	no		TASOR_DUF3715, TASOR, PIN_TASOR
GLB1	Other/Unknown	no		Glycoside_Hdrlase_35, Galactose-bd-like_sf, GH_hydrolase_sf
HDAC3	Enzyme (other)	yes	3.5.1.98	HDACs, HDAC_I/II, Ureohydrolase_dom_sf
HSD3B2	Enzyme (other)	yes	1.1.1.145	3Beta_OHSteriod_DH/Estase, NAD(P)-bd_dom_sf, Lipid_A_modif_metabolic_enz
LATS1	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS
LETM1	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
MAP4K3	Kinase	yes		Prot_kinase_dom, CNH_dom, Kinase-like_dom_sf
MEN1	Other/Unknown	no		Menin
TRPM1	Ion channel	yes		Ion_trans_dom, TRPM_tetra, TRPM_tetra_sf
MSH2	Other/Unknown	no		DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N, DNA_mismatch_repair_MutS_core
MT-ND4	Other/Unknown	no		NADH4_N, ND/Mrp_TM, NADH_UbQ_OxRdtase
MUTYH	Other/Unknown	no		NUDIX_hydrolase_dom, HhH_motif, HhH-GPD_domain
NF2	Other/Unknown	no		FERM_domain, Ez/rad/moesin-like, Moesin_tail_sf
POU3F4	Transcription factor	no		POU_dom, HD, Homeodomain-like_sf
RET	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Cadherin-like_dom

Expression context

Cohort genes with no expression data: 0.

30 cohort genes 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)	37
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ventricular zone	5
secondary oocyte	5
right hemisphere of cerebellum	5
granulocyte	4
oocyte	4
cerebellar hemisphere	4
sural nerve	4
pancreatic ductal cell	3
stromal cell of endometrium	3
buccal mucosa cell	2
cortical plate	2
male germ line stem cell (sensu Vertebrata) in testis	2
primordial germ cell in gonad	2
monocyte	2
mononuclear cell	2
ganglionic eminence	2
cerebellar cortex	2
mucosa of paranasal sinus	2
calcaneal tendon	2
apex of heart	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC6A2	121	ubiquitous	marker	placenta, buccal mucosa cell, decidua
SPRY3	162	broad	yes	pancreatic ductal cell, male germ line stem cell (sensu Vertebrata) in testis, cortical plate
SUV39H1	208	ubiquitous	yes	primordial germ cell in gonad, granulocyte, ventricular zone
TRAF3	258	ubiquitous	marker	cartilage tissue, monocyte, mononuclear cell
VBP1	300	ubiquitous	marker	biceps brachii, skeletal muscle tissue of rectus abdominis, diaphragm
PATZ1	278	ubiquitous	marker	ventricular zone, ganglionic eminence, embryo
BANP	277	ubiquitous	marker	oocyte, secondary oocyte, blood
CACNG2	70	tissue_specific	yes	right hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere
SLC39A11	239	ubiquitous	marker	bone marrow cell, ileal mucosa, pancreatic ductal cell
NET1	288	ubiquitous	marker	tendon of biceps brachii, mucosa of paranasal sinus, blood vessel layer
SYNE1	275	ubiquitous	marker	cerebellar hemisphere, right hemisphere of cerebellum, calcaneal tendon
ARHGAP32	275	ubiquitous	marker	middle temporal gyrus, secondary oocyte, postcentral gyrus
KAT6B	140	ubiquitous	yes	cortical plate, ventricular zone, sural nerve
ADGRA2	226	ubiquitous	marker	stromal cell of endometrium, seminal vesicle, endocervix
TXNRD2	264	ubiquitous	marker	right lobe of liver, right adrenal gland cortex, apex of heart
DEPDC5	236	ubiquitous	marker	paraflocculus, frontal pole, middle frontal gyrus
KREMEN2	128	broad	yes	pancreatic ductal cell, skin of abdomen, skin of leg
OTUD5	259	ubiquitous	marker	upper arm skin, cardiac muscle of right atrium, granulocyte
GON4L	255	ubiquitous	marker	sural nerve, granulocyte, colonic epithelium
SETD9	219	ubiquitous	marker	sperm, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis
KLHL21	283	ubiquitous	marker	gastrocnemius, hindlimb stylopod muscle, gluteal muscle
SH3TC2	168	broad	marker	corpus callosum, sural nerve, C1 segment of cervical spinal cord
TASOR	293	ubiquitous	marker	secondary oocyte, oocyte, calcaneal tendon
GLB1	258	ubiquitous	marker	monocyte, mononuclear cell, stromal cell of endometrium
HDAC3	293	ubiquitous	marker	right hemisphere of cerebellum, lower esophagus mucosa, cerebellar hemisphere
HSD3B2	157	tissue_specific	yes	right adrenal gland, right adrenal gland cortex, adrenal cortex
LATS1	263	ubiquitous	marker	germinal epithelium of ovary, tibia, mucosa of paranasal sinus
LETM1	268	ubiquitous	marker	mucosa of transverse colon, sural nerve, buccal mucosa cell
MAP4K3	286	ubiquitous	marker	secondary oocyte, adrenal tissue, oocyte
MEN1	271	ubiquitous	marker	granulocyte, lower esophagus mucosa, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 6.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MEN1	5,226
MSH2	4,537
SUV39H1	4,220
HDAC3	4,212
RET	4,203
TXNRD2	3,712
TRAF3	3,493
NF2	3,208
HSD3B2	2,968
SYNE1	2,886

Intra-cohort edges

A	B	Sources
HSD3B2	LETM1	biogrid_interaction, intact
LATS1	NF2	biogrid_interaction, string_interaction
MEN1	RET	string_interaction
MSH2	MUTYH	intact, string_interaction
OTUD5	TRAF3	string_interaction
POU3F4	RET	string_interaction

Structural data

PDB: 25 · AlphaFold-only: 12 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MEN1	O00255	69
SLC6A2	P23975	36
RET	P07949	34
MSH2	P43246	30
DEPDC5	O75140	11
TRAF3	Q13114	10
GLB1	P16278	8
MT-ND4	C0HME5	7
VBP1	P61758	6
NF2	P35240	6
PATZ1	Q9HBE1	5
CACNG2	Q9Y698	5
BANP	Q8N9N5	4
LATS1	O95835	4
SYNE1	Q8NF91	3
KAT6B	Q8WYB5	3
OTUD5	Q96G74	3
MUTYH	Q9UIF7	3
NET1	Q7Z628	2
TASOR	Q9UK61	2
LETM1	O95202	2
SUV39H1	O43463	1
ARHGAP32	A7KAX9	1
HDAC3	O15379	1
MAP4K3	Q8IVH8	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
HSD3B2	P26439	94.30
KLHL21	Q9UJP4	90.58
SETD9	Q8NE22	87.23
SH3TC2	Q8TF17	78.63
KREMEN2	Q8NCW0	77.77
SLC39A11	Q8N1S5	76.64
ADGRA2	Q96PE1	70.47
TRPM1	Q7Z4N2	66.74
POU3F4	P49335	64.25
SPRY3	O43610	63.71
GON4L	Q3T8J9	48.51
TXNRD2	Q9NNW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 189. Enrichment computed across 37 evidence-associated genes (29 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 29 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective MUTYH substrate binding	1	393.8×	0.107	MUTYH
Defective MUTYH substrate processing	1	393.8×	0.107	MUTYH
MPS IV - Morquio syndrome B (Keratin metabolism)	1	196.9×	0.107	GLB1
Defective Mismatch Repair Associated With MSH3	1	196.9×	0.107	MSH2
Defective Mismatch Repair Associated With MSH6	1	196.9×	0.107	MSH2
MPS IV - Morquio syndrome B (CS/DS degradation)	1	196.9×	0.107	GLB1
Negative regulators of DDX58/IFIH1 signaling	2	22.5×	0.107	TRAF3, OTUD5
Ovarian tumor domain proteases	2	19.2×	0.107	TRAF3, OTUD5
Gene expression (Transcription)	6	3.7×	0.107	SUV39H1, BANP, SETD9, TASOR, MEN1, MSH2
TRAF3 deficiency - HSE	1	131.3×	0.108	TRAF3
Defective Mismatch Repair Associated With MSH2	1	131.3×	0.108	MSH2
Defective NEU1 causes sialidosis	1	98.5×	0.108	GLB1
Mismatch Repair	1	98.5×	0.108	MSH2
Diseases of Mismatch Repair (MMR)	1	98.5×	0.108	MSH2
Defective SLC6A2 causes orthostatic intolerance (OI)	1	98.5×	0.108	SLC6A2
Epigenetic regulation of gene expression	3	7.4×	0.108	SUV39H1, TASOR, MEN1
Signaling by Rho GTPases	4	4.7×	0.108	NET1, LETM1, MEN1, NF2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	4	4.6×	0.108	NET1, LETM1, MEN1, NF2
Transcriptional Regulation by TP53	3	6.4×	0.110	BANP, SETD9, MSH2
p75NTR negatively regulates cell cycle via SC1	1	65.6×	0.128	HDAC3
Mucopolysaccharidoses	1	65.6×	0.128	GLB1
Signaling by LRP5 mutants	1	56.3×	0.128	KREMEN2
Loss of MECP2 binding ability to the NCoR/SMRT complex	1	56.3×	0.128	HDAC3
RHOB GTPase cycle	2	10.6×	0.128	NET1, ARHGAP32
RHOG GTPase cycle	2	10.2×	0.128	ARHGAP32, LETM1
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	2	10.1×	0.128	HDAC3, MEN1
Mineralocorticoid biosynthesis	1	49.2×	0.136	HSD3B2
Regulation of TP53 Activity	2	9.2×	0.136	BANP, SETD9
Displacement of DNA glycosylase by APEX1	1	35.8×	0.152	MUTYH
Androgen biosynthesis	1	35.8×	0.152	HSD3B2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 37 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of cyclin-dependent protein serine/threonine kinase activity	2	113.9×	0.045	LATS1, MEN1
response to oxygen radical	1	455.5×	0.054	TXNRD2
somatic recombination of immunoglobulin genes involved in immune response	1	455.5×	0.054	MSH2
chromosome passenger complex localization to spindle midzone	1	455.5×	0.054	KLHL21
eye blink reflex	1	455.5×	0.054	CACNG2
negative regulation of neuron projection arborization	1	455.5×	0.054	SPRY3
regulation of ERBB signaling pathway	1	455.5×	0.054	SH3TC2
positive regulation of protein localization to basolateral plasma membrane	1	455.5×	0.054	CACNG2
response to pain	2	47.9×	0.054	SLC6A2, RET
hippo signaling	2	39.6×	0.054	LATS1, NF2
mismatch repair	2	35.0×	0.054	MSH2, MUTYH
regulation of multicellular organism growth	2	35.0×	0.054	SUV39H1, HDAC3
negative regulation of JNK cascade	2	30.4×	0.054	HDAC3, MEN1
MAPK cascade	3	12.4×	0.054	MEN1, NF2, RET
embryonic epithelial tube formation	1	227.7×	0.064	RET
posterior midgut development	1	227.7×	0.064	RET
response to cortisone	1	227.7×	0.064	GLB1
regulation of establishment of blood-brain barrier	1	227.7×	0.064	ADGRA2
sister chromatid segregation	1	151.8×	0.064	LATS1
inner cell mass cell fate commitment	1	151.8×	0.064	LATS1
inner cell mass cellular morphogenesis	1	151.8×	0.064	LATS1
Schwann cell proliferation	1	151.8×	0.064	NF2
regulation of gliogenesis	1	151.8×	0.064	NF2
keratan sulfate proteoglycan catabolic process	1	151.8×	0.064	GLB1
regulation of transcription by glucose	1	151.8×	0.064	SUV39H1
mesodermal to mesenchymal transition involved in gastrulation	1	151.8×	0.064	TASOR
positive regulation of metanephric glomerulus development	1	151.8×	0.064	RET
nuclear matrix anchoring at nuclear membrane	1	151.8×	0.064	SYNE1
protein localization to heterochromatin	1	151.8×	0.064	TASOR
calcium export from the mitochondrion	1	151.8×	0.064	LETM1

Therapeutics

Drugs indicated for this disease

1 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Carmustine	Approved (phase 4)
Carboplatin	Phase 3 (in late-stage trials)
Cisplatin	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Filgrastim	Phase 3 (in late-stage trials)
Vincristine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): ANTINEOPLASTON A10, Bevacizumab, Dextrose, Erlotinib, Everolimus, Marizomib, Methionine, Methotrexate, Transplatin, Valproic Acid.

Drug target analysis

Approved (phase 4): 8 · Phase ≥3: 9 · Phased (≥1): 9 · Undrugged: 28

Druggability breadth: 21 of 37 evidence-associated genes (57%) 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.

Symbol	Example approved molecule
SLC6A2	CETIRIZINE
CACNG2	NIMODIPINE
GLB1	MIGALASTAT
HDAC3	GIVINOSTAT
LATS1	IBRUTINIB
MAP4K3	FEDRATINIB
MEN1	LOPERAMIDE
RET	PONATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MEN1	475	4
SLC6A2	471	4
RET	135	4
MAP4K3	42	4
HDAC3	37	4
LATS1	32	4
TXNRD2	3	3
CACNG2	2	4
GLB1	1	4
SPRY3	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CETIRIZINE	4	SLC6A2
BEPRIDIL	4	SLC6A2
CANDESARTAN CILEXETIL	4	MEN1, SLC6A2
BEXAROTENE	4	MEN1, SLC6A2
CLOTRIMAZOLE	4	MEN1, SLC6A2
AMINOCAPROIC ACID	4	MEN1, SLC6A2
SIMVASTATIN	4	SLC6A2
NABUMETONE	4	SLC6A2
METAXALONE	4	SLC6A2
ACETOPHENAZINE	4	SLC6A2
MESORIDAZINE	4	SLC6A2
PHENELZINE	4	SLC6A2
NIRAPARIB	4	SLC6A2
INDACATEROL	4	SLC6A2
IMIPRAMINE	4	SLC6A2
EPINASTINE	4	SLC6A2
RIMONABANT	4	SLC6A2
ARIPIPRAZOLE	4	MEN1, SLC6A2
AMOXAPINE	4	MEN1, SLC6A2
IDARUBICIN	4	MEN1, SLC6A2
DESVENLAFAXINE	4	SLC6A2
EZETIMIBE	4	SLC6A2
PONATINIB	4	RET, SLC6A2
DESLORATADINE	4	MEN1, SLC6A2
RUCAPARIB	4	SLC6A2
DULOXETINE	4	SLC6A2
CELECOXIB	4	HDAC3, SLC6A2
UMECLIDINIUM	4	SLC6A2
TRIMETREXATE	4	MEN1, SLC6A2
PHENIRAMINE	4	SLC6A2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 6.

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

Symbol	Assays	Type breakdown
HDAC3	2,753	Binding:2724, ADMET:23, Functional:5, Toxicity:1
RET	1,586	Binding:1573, Functional:10, ADMET:3
SLC6A2	929	Binding:885, ADMET:25, Functional:15, Toxicity:3, Unclassified:1
LATS1	207	Binding:207
MAP4K3	157	Binding:157
GLB1	124	Binding:123, ADMET:1
MEN1	93	Binding:86, Functional:7
TXNRD2	91	Binding:76, Functional:15
SUV39H1	81	Binding:81
KAT6B	22	Binding:20, Functional:2
CACNG2	17	Binding:15, ADMET:2
MSH2	9	Binding:9
HSD3B2	3	Binding:3
NET1	2	Binding:2
ADGRA2	2	Binding:2
SLC39A11	1	Binding:1
OTUD5	1	Binding:1
KLHL21	1	Binding:1
LETM1	1	Binding:1
MUTYH	1	Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SUV39H1	2.1.1.355	[histone H3]-lysine9 N-trimethyltransferase
KAT6B	2.3.1.48	histone acetyltransferase
TXNRD2	1.8.1.9	thioredoxin-disulfide reductase (NADPH)
HDAC3	3.5.1.98	histone deacetylase
HSD3B2	1.1.1.145, 5.3.3.1	3beta-hydroxy-DELTA5-steroid dehydrogenase, steroid DELTA-isomerase
RET	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SLC6A2	929
GLB1	124
HDAC3	2,753
LATS1	207
MAP4K3	157
RET	1,586

Pharmacogenomics

Cohort genes with a PharmGKB record: 37; 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.

Compound	Max phase	Cohort target (bioactivity)
CETIRIZINE	4	SLC6A2
BEPRIDIL	4	SLC6A2
CANDESARTAN CILEXETIL	4	MEN1, SLC6A2
BEXAROTENE	4	MEN1, SLC6A2
CLOTRIMAZOLE	4	MEN1, SLC6A2
AMINOCAPROIC ACID	4	MEN1, SLC6A2
SIMVASTATIN	4	SLC6A2
NABUMETONE	4	SLC6A2
METAXALONE	4	SLC6A2
ACETOPHENAZINE	4	SLC6A2
MESORIDAZINE	4	SLC6A2
PHENELZINE	4	SLC6A2
NIRAPARIB	4	SLC6A2
INDACATEROL	4	SLC6A2
IMIPRAMINE	4	SLC6A2
EPINASTINE	4	SLC6A2
RIMONABANT	4	SLC6A2
ARIPIPRAZOLE	4	MEN1, SLC6A2
AMOXAPINE	4	MEN1, SLC6A2
IDARUBICIN	4	MEN1, SLC6A2
DESVENLAFAXINE	4	SLC6A2
EZETIMIBE	4	SLC6A2
PONATINIB	4	RET, SLC6A2
DESLORATADINE	4	MEN1, SLC6A2
RUCAPARIB	4	SLC6A2
DULOXETINE	4	SLC6A2
CELECOXIB	4	HDAC3, SLC6A2
UMECLIDINIUM	4	SLC6A2
TRIMETREXATE	4	MEN1, SLC6A2
PHENIRAMINE	4	SLC6A2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	8	SLC6A2, CACNG2, GLB1, HDAC3, LATS1, MAP4K3, MEN1, RET
B	Phased (≥1) drug, not yet approved	1	TXNRD2
C	Druggable family + PDB, no drug	2	SUV39H1, OTUD5
D	Druggable family + AlphaFold only, no drug	3	ADGRA2, HSD3B2, TRPM1
E	Difficult family or no structure, no drug	23	SPRY3, TRAF3, VBP1, PATZ1, BANP, SLC39A11, NET1, SYNE1, ARHGAP32, KAT6B (+13 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SPRY3	0	—
SUV39H1	81	—
TRAF3	0	—
VBP1	0	—
PATZ1	0	—
BANP	0	—
SLC39A11	1	—
NET1	2	—
SYNE1	0	—
ARHGAP32	0	—
KAT6B	22	—
ADGRA2	2	—
DEPDC5	0	—
KREMEN2	0	—
OTUD5	1	—
GON4L	0	—
SETD9	0	—
KLHL21	1	—
SH3TC2	0	—
TASOR	0	—
HSD3B2	3	—
LETM1	1	—
TRPM1	0	—
MSH2	9	—
MT-ND4	0	—
MUTYH	1	—
NF2	0	—
POU3F4	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 95.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	33
PHASE1	32
Not specified	19
PHASE1/PHASE2	5
EARLY_PHASE1	3
PHASE3	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00517959	PHASE3	UNKNOWN	SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT00749723	PHASE2/PHASE3	COMPLETED	Therapy Optimization Trial for the Treatment of Relapsed or Refractory Brain Tumors in Children
NCT01096368	PHASE3	COMPLETED	Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT02125786	PHASE2	ACTIVE_NOT_RECRUITING	A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT04049669	PHASE2	ACTIVE_NOT_RECRUITING	Pediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04374305	PHASE2	RECRUITING	Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2)
NCT04743661	PHASE2	ACTIVE_NOT_RECRUITING	131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma
NCT06161519	PHASE1/PHASE2	RECRUITING	PLX038 in Primary Central Nervous System Tumors Containing MYC or MYCN Amplifications
NCT06485908	PHASE1/PHASE2	NOT_YET_RECRUITING	Axitinib and Oral Metronomic Etoposide for Pediatric Children and AYA Refractory/Relapsing Medulloblastoma and Ependymoma
NCT06521567	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study of Cobolimab Plus Dostarlimab in Pediatric and Young Adult Participants With Cancer
NCT06639607	PHASE1/PHASE2	NOT_YET_RECRUITING	PEP-CMV + Nivolumab for Newly Diagnosed Diffuse Midline Glioma/High-grade Glioma and Recurrent Diffuse Midline Glioma/High-grade Glioma, Medulloblastoma, and Ependymoma
NCT06804655	PHASE2	NOT_YET_RECRUITING	Pharmacoscopy for Patients With Refractory Primary Brain Tumors
NCT07424092	PHASE2	RECRUITING	Intratumoral DNX-2401 for High Grade Pediatric Brain Tumors
NCT00003479	PHASE2	TERMINATED	Antineoplaston Therapy in Treating Patients With Ependymoma
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT01088035	PHASE2	TERMINATED	Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma
NCT01247922	PHASE2	TERMINATED	Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205
NCT01288235	PHASE2	COMPLETED	Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01295944	PHASE2	COMPLETED	Carboplatin and Bevacizumab for Recurrent Ependymoma
NCT01836549	PHASE2	TERMINATED	Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT03095248	PHASE2	TERMINATED	Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors
NCT03173950	PHASE2	COMPLETED	Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers
NCT03194906	PHASE2	COMPLETED	Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors
NCT03213665	PHASE2	COMPLETED	Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial)
NCT03213678	PHASE2	COMPLETED	Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial)
NCT03220035	PHASE2	COMPLETED	Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
NCT03233204	PHASE2	COMPLETED	Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
NCT03526250	PHASE2	COMPLETED	Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial)
NCT03727841	PHASE2	TERMINATED	Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial, and Spinal Cord Ependymoma

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CARBOPLATIN	4	4
LAROTRECTINIB	4	4
SELUMETINIB	4	3
2-MERCAPTOETHANESULFONIC ACID	4	2
ENSARTINIB	4	2
ERDAFITINIB	4	2
IVOSIDENIB	4	2
OLAPARIB	4	2
SELPERCATINIB	4	2
TAZEMETOSTAT	4	2
VEMURAFENIB	4	2
BRIGATINIB	4	1
DOSTARLIMAB	4	1
ETOPOSIDE PHOSPHATE	4	1
FENOFIBRIC ACID	4	1
IMETELSTAT SODIUM	4	1
IMIQUIMOD	4	1
LIOTHYRONINE	4	1
LOMUSTINE	4	1
NERATINIB	4	1
RETIFANLIMAB	4	1
SONIDEGIB	4	1
TEMOZOLOMIDE	4	1
TERFENADINE	4	1
THIOTEPA	4	1
VALACYCLOVIR	4	1
VINCRISTINE	4	1
TIPIFARNIB	3	2
AGLATIMAGENE BESADENOVEC	3	1
BEMPEGALDESLEUKIN	3	1