SUFU

Summary

SUFU (SUFU negative regulator of hedgehog signaling, HGNC:16466) is a protein-coding gene on chromosome 10q24.32, encoding Suppressor of fused homolog (Q9UMX1). Negative regulator in the hedgehog/smoothened signaling pathway. It is haploinsufficient (ClinGen: sufficient evidence).

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 51684 — RefSeq curated summary.

At a glance

• Gene–disease (curated): medulloblastoma (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 47
• Clinical variants (ClinVar): 1,758 total — 78 pathogenic, 40 likely-pathogenic
• Phenotypes (HPO): 193
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_016169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16466
Approved symbol	SUFU
Name	SUFU negative regulator of hedgehog signaling
Location	10q24.32
Locus type	gene with protein product
Status	Approved
Aliases	SUFUH, SUFUXL, PRO1280
Ensembl gene	ENSG00000107882
Ensembl biotype	protein_coding
OMIM	607035
Entrez	51684

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369899, ENST00000369902, ENST00000423559, ENST00000471000, ENST00000893175, ENST00000893176, ENST00000893177, ENST00000893178, ENST00000929517, ENST00000929518, ENST00000929519

RefSeq mRNA: 2 — MANE Select: NM_016169 NM_001178133, NM_016169

CCDS: CCDS53571, CCDS7537

Canonical transcript exons

ENST00000369902 — 12 exons

Exon	Start	End
ENSE00000811580	102627175	102627243
ENSE00000933217	102599433	102599544
ENSE00001101237	102549970	102550106
ENSE00001135876	102617290	102617428
ENSE00001135883	102615268	102615402
ENSE00001865530	102503972	102504334
ENSE00001929982	102630066	102633535
ENSE00002382609	102509169	102509303
ENSE00003466811	102593993	102594065
ENSE00003478461	102592582	102592724
ENSE00003495930	102593636	102593721
ENSE00003567555	102597140	102597293

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 95.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1983 / max 122.9877, expressed in 1806 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106725	9.5303	1782
106726	8.5357	1773
106727	0.1323	44

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	95.21	silver quality
kidney epithelium	UBERON:0004819	91.55	gold quality
vena cava	UBERON:0004087	89.11	gold quality
left ventricle myocardium	UBERON:0006566	86.58	gold quality
cardiac muscle of right atrium	UBERON:0003379	86.18	gold quality
nipple	UBERON:0002030	86.03	gold quality
body of tongue	UBERON:0011876	85.67	silver quality
cerebellar vermis	UBERON:0004720	84.59	silver quality
stromal cell of endometrium	CL:0002255	84.33	gold quality
tongue	UBERON:0001723	84.11	silver quality
layer of synovial tissue	UBERON:0007616	83.97	silver quality
lateral nuclear group of thalamus	UBERON:0002736	83.94	silver quality
pharyngeal mucosa	UBERON:0000355	83.90	silver quality
saphenous vein	UBERON:0007318	83.83	silver quality
trigeminal ganglion	UBERON:0001675	83.46	silver quality
lateral globus pallidus	UBERON:0002476	83.29	silver quality
medial globus pallidus	UBERON:0002477	83.11	gold quality
globus pallidus	UBERON:0001875	83.06	gold quality
trachea	UBERON:0003126	82.82	silver quality
superior surface of tongue	UBERON:0007371	82.70	silver quality
pancreatic ductal cell	CL:0002079	82.65	silver quality
pons	UBERON:0000988	82.43	gold quality
substantia nigra pars compacta	UBERON:0001965	82.36	silver quality
renal medulla	UBERON:0000362	82.18	silver quality
dorsal root ganglion	UBERON:0000044	82.15	silver quality
pylorus	UBERON:0001166	82.07	silver quality
cortical plate	UBERON:0005343	82.07	gold quality
ventral tegmental area	UBERON:0002691	81.99	silver quality
skin of leg	UBERON:0001511	81.89	gold quality
sperm	CL:0000019	81.88	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1, SOX10

miRNA regulators (miRDB)

198 targeting SUFU, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4492	99.87	68.25	3611
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-548D-3P	99.87	70.67	4362

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Suppressor of Fused represses Gli-mediated transcription by recruiting the SAP18-mSin3 corepressor complex. (PMID:11960000)
• Mutations in SUFU predispose to medulloblastoma. (PMID:12068298)
• loss of SUFU function results in overactivity of both the Sonic Hedgehog, and the WNT signaling pathways, leading to excessive proliferation and failure to differentiate resulting in medulloblastomas. (PMID:15077159)
• Overexpression of SUFU is associated with Split-hand/split-foot malformation 3 (PMID:16691619)
• These results suggest that miR-378 enhances cell survival, tumor growth, and angiogenesis through repression of the expression of two tumor suppressors, Sufu and Fus-1. (PMID:18077375)
• A role for SIL in derepressing GLI1 from the negative control of SUFU. (PMID:18829525)
• Shh signaling regulates Sufu activity by inducing its turnover via the ubiquitin-proteasome system. (PMID:18997815)
• expression induced by 4-Hydroxynonenal,one of several lipid oxidation products, in human leukemia cells, HL-60; this tumor suppressor protein is a target of miR-378 (PMID:19022373)
• human tumor suppressor SUFU has a role in Hedgehog signaling [review] (PMID:19055941)
• Suppressor of fused was overexpressed in endometrial carcinoma compared with the hyperplastic endometrium (PMID:19432668)
• First report of a germ line SUFU mutation associated with Gorlin syndrome. (PMID:19533801)
• Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. (PMID:19833601)
• inactivating germline mutations of SUFU cause ~2-3% of sporadic medulloblastomas and > 10% of desmoplastic medulloblastomas. (PMID:21188540)
• ciliary localization of Sufu is dependent on ciliary-localized Gli proteins, and is inhibited by PKA activation (PMID:21209912)
• We found that hedgehog-interacting protein, PDGFRalpha, smoothened and Su(Fu) gene highly expressed in the primary esophageal squamous cell carcinomas (PMID:21210262)
• Dual Phosphorylation of suppressor of fused (Sufu) by PKA and GSK3beta regulates its stability and localization in the primary cilium. (PMID:21317289)
• Suppressor of fused transgene negatively regulates hedgehog signaling and proliferation in retinal progenitor cells (RPCs); unexpectedly, Sufu-null RPCs fail to maintain their multipotency, differentiating as amacrine and horizontal neurons. (PMID:21451052)
• Glis3 interacts with Suppressor of Fused (SUFU) (PMID:21543335)
• Rab23 directly associates with Su(Fu) and inhibits Gli1 function in a Su(Fu)-dependent manner. (PMID:22365972)
• germline SUFU mutations are responsible for a high proportion of desmoplastic medulloblastoma in children younger than 3 years of age (PMID:22508808)
• mechanism of action on Hedgehog signaling by a suppressor of fused carboxy terminal variant (PMID:22666390)
• SUFU germline mutation is associated with nevoid basal cell carcinoma syndrome associated with meningioma. (PMID:22829011)
• Our genetic and functional analyses indicate that germline mutations in SUFU also predispose to meningiomas, particularly to multiple meningiomas. (PMID:22958902)
• Polymorphisms in the SUFU gene (encoding for a negative regulator of the hedgehog signaling pathway) are associated with protection from Enterobacteriacea bacteremia related organ injury and sepsis severity. (PMID:23538333)
• Data indicate a significant role of hedgehog receptor PTCH1 and SUFU in the pathogenesis of keratocystic odontogenic tumor (KCOT). (PMID:23951062)
• Functionally, RIOK3 acts as a SUFU-dependent positive regulator of Hedgehog signaling. (PMID:24018050)
• SUFU polymorphisms are associated with neural tube defects in a high-risk population in China. (PMID:24070372)
• The ‘closed’ form of Sufu is stabilized by Gli binding and inhibited by Hh treatment, whereas the ‘open’ state of Sufu is promoted by Gli-dissociation and Hh signaling. (PMID:24217340)
• It is demonstrated that GLI binding is associated with major conformational changes in SUFU, including an intrinsically disordered loop that is also crucial for pathway activation. (PMID:24311597)
• Sufu has a role in repressing Gli1 transcription and nuclear accumulation, inhibiting glioma cell proliferation, invasion and vasculogenic mimicry, improving glioma chemo-sensitivity and prognosis (PMID:25373737)
• suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome (PMID:25403219)
• SUFU germline polymorphism is associated with acute GVHD (PMID:26067905)
• This study uncovers a previously unappreciated miR-214-Sufu pathway in controlling EMT and metastasis of lung adenocarcinoma. (PMID:26462018)
• A germline SUFU mutation was present in a patient with MHIBCC, and additional acquired SUFU mutations underlie the development of infundibulocystic basal cell carcinomas (PMID:26677003)
• In summary, these findings reveal Fbxl17 as a novel regulator of the Hedgehog signaling pathway and highlight the perturbation of the Fbxl17-Sufu axis in the pathogenesis of medulloblastoma. (PMID:27234298)
• Nek2A is found to stabilize SuFu at least partly depending on its kinase activity, thereby triggering phosphorylation of the SuFu protein. (PMID:27297360)
• We showed that the supplementation of the osteogenic differentiation medium with PTHrP inhibited the alkaline phosphatase activity and the expression of the transcription factor DLX3, but the depletion of PTHrP did not support the differentiation of DFCs.We showed that SUFU (Suppressor Of Fused Homolog) was not regulated during the osteogenic differentiation in DFCs (PMID:27368119)
• there was a positive correlation between VDR status and the expression of Suppressor of fused gene (SuFu), a hedgehog pathway inhibitor. miR-214 on the other hand suppressed SuFu protein expression. (PMID:27693451)
• miRNA-194 is oncogenic and promotes gastric cancer cell proliferation and migration by activating Wnt signaling, at least in part, via suppression of SUFU. (PMID:27810403)
• The data indicate that there exists a novel transcript variant of SUFU which can be transcribed and translated into corresponding protein and its transcription is related with metastasis of lymph nodes in pancreatic ductal adenocarcinoma. (PMID:27840902)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sufu	ENSDARG00000056801
mus_musculus	Sufu	ENSMUSG00000025231
rattus_norvegicus	Sufu	ENSRNOG00000019807
drosophila_melanogaster	Su(fu)	FBGN0005355

Protein

Protein identifiers

Suppressor of fused homolog — Q9UMX1 (reviewed: Q9UMX1)

All UniProt accessions (2): Q9UMX1, A0A223LX15

UniProt curated annotations — full annotation on UniProt →

Function. Negative regulator in the hedgehog/smoothened signaling pathway. Down-regulates GLI1-mediated transactivation of target genes. Down-regulates GLI2-mediated transactivation of target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Required for normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation.

Subunit / interactions. May form homodimers. Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3. Part of a complex containing CTNNB1. Interacts with SAP18. Interacts with BTRC. Interacts with GLI2 and GLI3. Interacts with STK36. Interacts with both free and DNA-bound GLI1. Interacts with KIF7. Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator forms of GLI3. Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A. Interacts with ULK3; inactivating the protein kinase activity of ULK3. Interacts with RAB23. Interacts with TMEM216; this interaction inhibits interaction of SUFU with GLI2 and GLI3.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much lower levels in fetal brain, lung and kidney.

Post-translational modifications. Polyubiquitinated at Lys-257 by the SCF(FBXL17) complex, leading to its subsequent degradation and allowing the release of GLI1 for proper hedgehog/smoothened signal transduction. Ubiquitination is impaired by phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353. Phosphorylation at Ser-342, Ser-346, Ser-352 and Thr-353 prevents ubiquitination by the SCF(FBXL17) complex.

Disease relevance. Medulloblastoma (MDB) [MIM:155255] Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. The disease is caused by variants affecting the gene represented in this entry. Joubert syndrome 32 (JBTS32) [MIM:617757] A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Basal cell nevus syndrome 2 (BCNS2) [MIM:620343] A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Major isoform.

Similarity. Belongs to the SUFU family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9UMX1-1	1, Su(fu)484	yes
Q9UMX1-2	2, Su(fu)433
Q9UMX1-3	3

RefSeq proteins (2): NP_001171604, NP_057253* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007768	Suppressor_of_fused	Family
IPR016591	Suppressor_of_fused_euk	Family
IPR020941	SUFU-like_domain	Domain
IPR024314	SUFU_C	Domain
IPR037181	SUFU_N	Homologous_superfamily
IPR038489	SUFU_C_sf	Homologous_superfamily

Pfam: PF05076, PF12470

UniProt features (84 total): strand 20, helix 16, sequence variant 14, mutagenesis site 14, modified residue 7, splice variant 3, region of interest 2, cross-link 2, compositionally biased region 2, turn 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
4KMD	X-RAY DIFFRACTION	1.7
4KM8	X-RAY DIFFRACTION	2.26
1M1L	X-RAY DIFFRACTION	2.65
4BL9	X-RAY DIFFRACTION	2.8
4BLB	X-RAY DIFFRACTION	2.8
4BLD	X-RAY DIFFRACTION	2.8
4BL8	X-RAY DIFFRACTION	3.04
4KMH	X-RAY DIFFRACTION	3.04
4KM9	X-RAY DIFFRACTION	3.19
4BLA	X-RAY DIFFRACTION	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UMX1-F1	82.95	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (9): 353, 481, 257, 321, 301, 303, 342, 346, 352

Mutagenesis-validated functional residues (14):

Position	Phenotype
106	no effect on down-regulation of gli1 activity.
111	no effect on down-regulation of gli1 activity.
128	no effect on down-regulation of gli1 activity.
147	impairs interaction with gli1 and gli2. abolishes interaction with gli1 and gli2; when associated with r-159 and r-380.
152	no effect on down-regulation of gli1 activity.
159	abolishes down-regulation of gli1 activity. has only slight effect on gli1 binding.
159	impairs interaction with gli1 and gli2. abolishes interaction with gli1 and gli2; when associated with r-147 and r-380.
181	no effect on down-regulation of gli1 activity.
221	no effect on down-regulation of gli1 activity.
257	abolishes ubiquitination by the scf(fbxl17) complex.
262	no effect on down-regulation of gli1 activity.
342–346	increased interaction with fbxl17 and ubiquitination by the scf(fbxl17) complex.
342–346	phosphomimetic mutant; decreased interaction with fbxl17 and ubiquitination by the scf(fbxl17) complex.
380	impairs interaction with gli1 and gli2. abolishes interaction with gli1 and gli2; when associated with r-147 and r-159.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5610780	Degradation of GLI1 by the proteasome
R-HSA-5610783	Degradation of GLI2 by the proteasome
R-HSA-5610785	GLI3 is processed to GLI3R by the proteasome
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5632684	Hedgehog ‘on’ state
R-HSA-162582	Signal Transduction
R-HSA-5358351	Signaling by Hedgehog

MSigDB gene sets: 654 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_OSTEOBLAST_DIFFERENTIATION, GOBP_ARTERY_DEVELOPMENT, GOBP_NEURAL_TUBE_DEVELOPMENT

GO Biological Process (24): negative regulation of transcription by RNA polymerase II (GO:0000122), neural tube closure (GO:0001843), heart looping (GO:0001947), ventricular septum development (GO:0003281), regulation of DNA-templated transcription (GO:0006355), signal transduction (GO:0007165), spermatid development (GO:0007286), smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775), smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776), dorsal/ventral neural tube patterning (GO:0021904), aorta development (GO:0035904), negative regulation of protein import into nucleus (GO:0042308), skin development (GO:0043588), negative regulation of osteoblast differentiation (GO:0045668), negative regulation of smoothened signaling pathway (GO:0045879), coronary vasculature development (GO:0060976), maintenance of protein localization in organelle (GO:0072595), negative regulation of ubiquitin-dependent protein catabolic process (GO:2000059), positive regulation of cellular response to drug (GO:2001040), smoothened signaling pathway (GO:0007224), determination of left/right symmetry (GO:0007368), spinal cord dorsal/ventral patterning (GO:0021513), spinal cord motor neuron cell fate specification (GO:0021520), ventral spinal cord interneuron specification (GO:0021521)

GO Molecular Function (6): transcription corepressor activity (GO:0003714), beta-catenin binding (GO:0008013), protein kinase binding (GO:0019901), protein sequestering activity (GO:0140311), protein binding (GO:0005515), transcription factor binding (GO:0008134)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929), ciliary tip (GO:0097542), ciliary base (GO:0097546), GLI-SUFU complex (GO:1990788)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Hedgehog ‘off’ state	3
Signaling by Hedgehog	2
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
protein binding	3
negative regulation of DNA-templated transcription	2
smoothened signaling pathway involved in ventral spinal cord patterning	2
cilium	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
primary neural tube formation	1
tube closure	1
embryonic heart tube morphogenesis	1
determination of heart left/right asymmetry	1
cardiac ventricle development	1
cardiac septum development	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
germ cell development	1
spermatid differentiation	1
ventral spinal cord interneuron specification	1
spinal cord motor neuron cell fate specification	1
dorsal/ventral pattern formation	1
neural tube patterning	1
artery development	1
protein import into nucleus	1
regulation of protein import into nucleus	1
negative regulation of nucleocytoplasmic transport	1
negative regulation of intracellular protein transport	1
negative regulation of protein localization to nucleus	1
animal organ development	1
osteoblast differentiation	1
negative regulation of cell differentiation	1
regulation of osteoblast differentiation	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
negative regulation of signal transduction	1

Protein interactions and networks

STRING

1753 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUFU	GLI1	P08151	999
SUFU	GLI2	P10070	999
SUFU	KIF7	Q2M1P5	998
SUFU	GLI3	P10071	997
SUFU	SMO	Q99835	984
SUFU	PTCH1	Q13635	975
SUFU	SHH	Q15465	934
SUFU	PRKACA	P17612	929
SUFU	PRKACG	P22612	929
SUFU	PRKACB	P22694	929
SUFU	PTCH2	Q9Y6C5	918
SUFU	STK36	Q9NRP7	893
SUFU	RAB23	Q9ULC3	838
SUFU	CNBP	P20694	829
SUFU	TUSC2	O75896	822

IntAct

250 interactions, top by confidence:

A	B	Type	Score
GLI1	SUFU	psi-mi:“MI:0407”(direct interaction)	0.970
SUFU	GLI1	psi-mi:“MI:0407”(direct interaction)	0.970
GLI1	SUFU	psi-mi:“MI:0915”(physical association)	0.970
SUFU	GLI1	psi-mi:“MI:0915”(physical association)	0.970
ZNF747	SUFU	psi-mi:“MI:0915”(physical association)	0.890
SUFU	ZNF747	psi-mi:“MI:0915”(physical association)	0.890
ZNF764	SUFU	psi-mi:“MI:0915”(physical association)	0.880
BFSP2	SUFU	psi-mi:“MI:0915”(physical association)	0.800
GLI3	SUFU	psi-mi:“MI:0407”(direct interaction)	0.770
SUFU	GLI3	psi-mi:“MI:0407”(direct interaction)	0.770
RCN3	SUFU	psi-mi:“MI:0915”(physical association)	0.700
ZNF446	SUFU	psi-mi:“MI:0915”(physical association)	0.670
HDX	SUFU	psi-mi:“MI:0915”(physical association)	0.670
ZSCAN18	SUFU	psi-mi:“MI:0915”(physical association)	0.670
SUFU	HDX	psi-mi:“MI:0915”(physical association)	0.670
FAM90A1	KPNA3	psi-mi:“MI:0914”(association)	0.670
OVOL1	SUFU	psi-mi:“MI:0915”(physical association)	0.640

BioGRID (185): ZNF747 (Two-hybrid), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Two-hybrid), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), SUFU (Affinity Capture-MS), GLIS3 (Two-hybrid), RCN3 (Two-hybrid), ZNF446 (Two-hybrid), ZNF764 (Two-hybrid)

ESM2 similar proteins: A2QRA0, A4IIA7, A6NHR9, B4XT64, B9F4I8, F4JSE7, P03273, P0CY36, P21784, P38899, P40434, P40889, P48752, P78746, Q03099, Q07888, Q0WL81, Q12789, Q3E7X8, Q3E7Y5, Q4R683, Q4R907, Q4WVM1, Q53NI2, Q5E9N5, Q5RAX4, Q60649, Q651A1, Q66J91, Q6P5D8, Q86UB2, Q8BLI4, Q8BMD5, Q8CBX9, Q8IPH9, Q8NG08, Q8VZF6, Q91YE9, Q93ZS1, Q96P26

Diamond homologs: Q9UMX1, Q9Z0P7

SIGNOR signaling

22 interactions.

A	Effect	B	Mechanism
SUFU	up-regulates	SAP18	binding
PRKACA	up-regulates	SUFU	phosphorylation
MTSS1	up-regulates	SUFU	binding
SUFU	down-regulates	GLIS2	relocalization
PRKACA	“up-regulates quantity by stabilization”	SUFU	phosphorylation
SUFU	down-regulates	GLIS3	binding
SMO	“down-regulates activity”	SUFU	binding
SUFU	“up-regulates quantity by stabilization”	GLI2	binding
SUFU	“up-regulates quantity by stabilization”	GLI3	binding
LNX1	“down-regulates quantity”	SUFU	ubiquitination
NEK2	“up-regulates activity”	SUFU	phosphorylation
FBXW11	up-regulates	SUFU	binding
SUFU	down-regulates	GLI3	relocalization
SUFU	up-regulates	SUFU	binding
SUFU	“down-regulates activity”	GLI2	relocalization
SUFU	“down-regulates activity”	GLI3	relocalization
SUFU	“down-regulates activity”	GLI1	binding
FBXL17	“down-regulates quantity by destabilization”	SUFU	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 127 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Hedgehog ‘off’ state	6	12.8×	2e-03
Hedgehog ‘on’ state	6	11.3×	2e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PAST.

Clinical variants and AI predictions

ClinVar

1758 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	78
Likely pathogenic	40
Uncertain significance	824
Likely benign	652
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1015843	NC_000010.10:g.(?104386922)(104392580_?)del	Pathogenic
1068514	NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)	Pathogenic
1069396	NM_016169.4(SUFU):c.1018del (p.Ala340fs)	Pathogenic
1072313	NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)	Pathogenic
1072352	NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)	Pathogenic
1074433	NC_000010.10:g.(?104352329)(104352491_?)del	Pathogenic
1074434	NC_000010.10:g.(?104352329)(104353832_?)del	Pathogenic
1075819	NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)	Pathogenic
1325695	NM_016169.4(SUFU):c.479del (p.His160fs)	Pathogenic
1366442	NM_016169.4(SUFU):c.576dup (p.Gly193fs)	Pathogenic
1387820	NM_016169.4(SUFU):c.1123del (p.Gln375fs)	Pathogenic
1395659	NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)	Pathogenic
1428202	NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)	Pathogenic
1453994	NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)	Pathogenic
1457629	NM_016169.4(SUFU):c.1077del (p.Glu359fs)	Pathogenic
1460284	NC_000010.10:g.(?104263900)(104389922_?)del	Pathogenic
1684303	NM_016169.4(SUFU):c.160del (p.Val54fs)	Pathogenic
2124069	NM_016169.4(SUFU):c.138_141del (p.Asp47fs)	Pathogenic
2134566	NM_016169.4(SUFU):c.581del (p.Val194fs)	Pathogenic
2135261	NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)	Pathogenic
2136929	NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)	Pathogenic
2151018	NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)	Pathogenic
217007	NM_016169.4(SUFU):c.111del (p.Tyr38fs)	Pathogenic
2413121	NM_016169.4(SUFU):c.846del (p.Glu283fs)	Pathogenic
2452610	NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)	Pathogenic
2562345	NM_016169.4(SUFU):c.1022del (p.Pro341fs)	Pathogenic
2640794	NM_016169.4(SUFU):c.225del (p.Asn76fs)	Pathogenic
2944270	NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)	Pathogenic
2945246	NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)	Pathogenic
2945856	NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)	Pathogenic

SpliceAI

3568 predictions. Top by Δscore:

Variant	Effect	Δscore
10:102504325:TC:T	donor_gain	1.0000
10:102509164:TGCA:T	acceptor_loss	1.0000
10:102509165:GCA:G	acceptor_loss	1.0000
10:102509166:CA:C	acceptor_loss	1.0000
10:102509167:A:AG	acceptor_gain	1.0000
10:102509167:AG:A	acceptor_gain	1.0000
10:102509167:AGG:A	acceptor_loss	1.0000
10:102509167:AGGTT:A	acceptor_gain	1.0000
10:102509168:G:GG	acceptor_gain	1.0000
10:102509168:GG:G	acceptor_gain	1.0000
10:102509168:GGT:G	acceptor_gain	1.0000
10:102509168:GGTT:G	acceptor_gain	1.0000
10:102509168:GGTTG:G	acceptor_gain	1.0000
10:102509300:ATGA:A	donor_gain	1.0000
10:102509301:TGA:T	donor_gain	1.0000
10:102509302:GA:G	donor_gain	1.0000
10:102509302:GAG:G	donor_gain	1.0000
10:102509302:GAGT:G	donor_loss	1.0000
10:102509303:AGT:A	donor_loss	1.0000
10:102509304:G:GG	donor_gain	1.0000
10:102509304:GT:G	donor_loss	1.0000
10:102509305:T:G	donor_loss	1.0000
10:102509308:G:GG	donor_gain	1.0000
10:102550102:GTCAG:G	donor_gain	1.0000
10:102593622:ATCCT:A	acceptor_gain	1.0000
10:102593626:T:TA	acceptor_gain	1.0000
10:102593627:G:A	acceptor_gain	1.0000
10:102593632:TCAGA:T	acceptor_loss	1.0000
10:102593633:CAGA:C	acceptor_loss	1.0000
10:102593634:A:AG	acceptor_gain	1.0000

AlphaMissense

3175 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:102504319:C:A	A56D	1.000
10:102504327:A:G	K59E	1.000
10:102504329:G:C	K59N	1.000
10:102504329:G:T	K59N	1.000
10:102509176:G:C	G64R	1.000
10:102509186:C:A	P67H	1.000
10:102509189:T:C	L68S	1.000
10:102509189:T:G	L68W	1.000
10:102509191:G:C	D69H	1.000
10:102509192:A:T	D69V	1.000
10:102509198:T:A	V71D	1.000
10:102509200:A:C	S72R	1.000
10:102509202:C:A	S72R	1.000
10:102509202:C:G	S72R	1.000
10:102509206:T:G	Y74D	1.000
10:102509248:T:A	W88R	1.000
10:102509248:T:C	W88R	1.000
10:102509249:G:C	W88S	1.000
10:102509250:G:C	W88C	1.000
10:102509250:G:T	W88C	1.000
10:102509254:T:G	Y90D	1.000
10:102509260:A:C	S92R	1.000
10:102509261:G:T	S92I	1.000
10:102509262:C:A	S92R	1.000
10:102509262:C:G	S92R	1.000
10:102509266:G:C	G94R	1.000
10:102509267:G:A	G94D	1.000
10:102509267:G:T	G94V	1.000
10:102509270:T:C	L95P	1.000
10:102509272:A:C	S96R	1.000

dbSNP variants (sampled 300 via entrez): RS1000056362 (10:102522147 C>T), RS1000061989 (10:102630988 C>A), RS1000067563 (10:102592334 G>A), RS1000074535 (10:102611391 T>C,G), RS1000084851 (10:102522077 G>C), RS1000108508 (10:102501291 A>G), RS1000169315 (10:102516384 G>T), RS1000183065 (10:102579709 G>A,C), RS1000205723 (10:102575403 G>T), RS1000214612 (10:102559088 A>G), RS1000257871 (10:102604175 C>T), RS1000298794 (10:102525578 C>A), RS1000313138 (10:102509828 C>T), RS1000343139 (10:102618223 T>C), RS1000347341 (10:102510145 G>A)

Disease associations

OMIM: gene MIM:607035 | disease phenotypes: MIM:109400, MIM:155255, MIM:607174, MIM:617757, MIM:620343, MIM:257550

GenCC curated gene-disease

Disease	Classification	Inheritance
medulloblastoma	Definitive	Autosomal dominant
nevoid basal cell carcinoma syndrome	Definitive	Autosomal dominant
Joubert syndrome 32	Strong	Autosomal recessive
neurodevelopmental disorder	Strong	Autosomal dominant
basal cell nevus syndrome 2	Strong	Autosomal dominant
ocular motor apraxia, Cogan type	Strong	Autosomal dominant
Joubert syndrome	Moderate	Autosomal dominant
apraxia	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
medulloblastoma	Definitive	AD
ciliopathy	Limited	AR

Mondo (16): nevoid basal cell carcinoma syndrome (MONDO:0007187), medulloblastoma (MONDO:0007959), hereditary neoplastic syndrome (MONDO:0015356), familial meningioma (MONDO:0011789), Joubert syndrome 32 (MONDO:0033309), basal cell nevus syndrome 2 (MONDO:0958189), microform holoprosencephaly (MONDO:0017219), basal cell nevus syndrome 1 (MONDO:0958174), prostate cancer (MONDO:0008315), neurodevelopmental disorder (MONDO:0700092), craniopharyngioma (MONDO:0018907), congenital fibrosarcoma (MONDO:0004557), meningioma (MONDO:0016642), ocular motor apraxia, Cogan type (MONDO:0009764), apraxia (MONDO:0000665)

Orphanet (9): Inherited cancer-predisposing syndrome (Orphanet:140162), Gorlin syndrome (Orphanet:377), Medulloblastoma (Orphanet:616), Familial multiple meningioma (Orphanet:263662), Microform holoprosencephaly (Orphanet:280200), Familial prostate cancer (Orphanet:1331), Craniopharyngioma (Orphanet:54595), Meningioma (Orphanet:2495), Ocular motor apraxia, Cogan type (Orphanet:1125)

HPO phenotypes

193 total (30 of 193 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000062	Ambiguous genitalia
HP:0000098	Tall stature
HP:0000104	Renal agenesis
HP:0000141	Amenorrhea
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000238	Hydrocephalus
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000276	Long face
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000360	Tinnitus
HP:0000369	Low-set ears
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000446	Narrow nasal bridge
HP:0000453	Choanal atresia
HP:0000463	Anteverted nares
HP:0000464	Abnormality of the neck
HP:0000486	Strabismus

GWAS associations

47 associations (top):

Study	Trait	p-value
GCST001942_1	Prostate cancer	5.000000e-10
GCST002783_199	Body mass index	3.000000e-06
GCST002783_354	Body mass index	8.000000e-07
GCST002928_1	Nickel levels	8.000000e-06
GCST003990_15	Allergy	1.000000e-10
GCST004063_3	Waist circumference adjusted for body mass index	2.000000e-10
GCST004063_65	Waist circumference adjusted for body mass index	6.000000e-10
GCST004500_121	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-06
GCST004500_54	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-08
GCST004501_67	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-08
GCST004501_68	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-06
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_53	Autism spectrum disorder or schizophrenia	9.000000e-10
GCST004557_15	Body mass index	2.000000e-07
GCST004558_12	Body mass index (joint analysis main effects and physical activity interaction)	4.000000e-08
GCST004559_10	Body mass index in physically active individuals	4.000000e-06
GCST004624_180	Sum eosinophil basophil counts	3.000000e-09
GCST005956_50	Waist-to-hip ratio adjusted for BMI	8.000000e-06
GCST005958_15	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST005962_36	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07
GCST005973_41	White blood cell count	4.000000e-09
GCST005984_51	Glomerular filtration rate	2.000000e-09
GCST005985_30	Creatinine levels	3.000000e-08
GCST007267_57	Systolic blood pressure	8.000000e-16
GCST007344_117	Estimated glomerular filtration rate	6.000000e-09
GCST007344_57	Estimated glomerular filtration rate	2.000000e-06
GCST008163_460	Height	4.000000e-07
GCST009462_108	Optic disc size	1.000000e-11
GCST010002_298	Refractive error	3.000000e-22
GCST010397_6	Gut microbiota (bacterial taxa, rank normal transformation method)	9.000000e-07

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007789	BMI-adjusted waist circumference
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0006335	systolic blood pressure
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography
EFO:0004847	age at onset
EFO:0008039	BMI-adjusted hip circumference
EFO:0004309	platelet count

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D001072	Apraxias	C10.597.606.881.350; C23.888.592.604.882.350; F01.700.875.350
D001478	Basal Cell Nevus Syndrome	C04.182.089.530.690.150; C04.557.470.200.165.150; C04.557.470.565.165.150; C04.700.175; C05.116.099.105; C05.500.470.690.150; C07.320.450.670.130; C16.131.077.130; C16.320.700.175
D003397	Craniopharyngioma	C04.557.465.625.200; C04.557.580.625.200
D008527	Medulloblastoma	C04.557.465.625.600.380.515; C04.557.465.625.600.590.500; C04.557.470.670.380.515; C04.557.470.670.590.500; C04.557.580.625.600.380.515; C04.557.580.625.600.590.500
D008579	Meningioma	C04.557.580.520; C04.557.645.520; C04.588.614.250.580.500; C10.551.240.500.500
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D065886	Neurodevelopmental Disorders	F03.625
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C537423	Apraxia, oculomotor, Cogan type (supp.)
C537443	Meningioma, familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5390 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol A	decreases expression, increases reaction	1
trichostatin A	affects expression	1
cinnamaldehyde	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	decreases expression	1
HhAntag691	decreases response to substance	1
sonidegib	decreases response to substance	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Fluorouracil	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Quercetin	increases phosphorylation	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL993446	Binding	Binding affinity to human FUSED at 10 uM relative to control	Assessment of chemical coverage of kinome space and its implications for kinase drug discovery. — J Med Chem

Cellosaurus cell lines

7 cell lines: 5 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3IP	Abcam HEK293T SUFU KO	Transformed cell line	Female
CVCL_B8QE	Abcam HCT 116 SUFU KO	Cancer cell line	Male
CVCL_B9C3	Abcam MCF-7 SUFU KO	Cancer cell line	Female
CVCL_B9SV	Abcam A-549 SUFU KO	Cancer cell line	Male
CVCL_D9TM	Ubigene HEK293 SUFU KO	Transformed cell line	Female
CVCL_TR18	HAP1 SUFU (-) 1	Cancer cell line	Male
CVCL_TR19	HAP1 SUFU (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

205 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02875314	PHASE4	ACTIVE_NOT_RECRUITING	HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors
NCT04081701	PHASE4	RECRUITING	68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors.
NCT00085735	PHASE3	COMPLETED	Comparison of Radiation Therapy Regimens in Combination With Chemotherapy in Treating Young Patients With Newly Diagnosed Standard-Risk Medulloblastoma
NCT00336024	PHASE3	COMPLETED	Combination Chemotherapy Followed By Peripheral Stem Cell Transplant in Treating Young Patients With Newly Diagnosed Supratentorial Primitive Neuroectodermal Tumors or High-Risk Medulloblastoma
NCT00392327	PHASE3	ACTIVE_NOT_RECRUITING	Chemotherapy and Radiation Therapy in Treating Young Patients With Newly Diagnosed, Previously Untreated, High-Risk Medulloblastoma/PNET
NCT01351870	PHASE3	COMPLETED	Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma (PNET4)
NCT07291102	PHASE3	NOT_YET_RECRUITING	Comparison of Neurocognitive Outcome in Two Standard Regimen for Treatment of Low-risk Medulloblastoma
NCT00049959	PHASE3	TERMINATED	Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.
NCT03703310	PHASE3	COMPLETED	Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome (Gorlin Syndrome)
NCT04308395	PHASE3	TERMINATED	Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome)
NCT06050122	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome
NCT00031590	PHASE2	TERMINATED	Low-Dose Radiation and Combination Chemotherapy Following Surgery in Children With Newly Diagnosed Medulloblastoma
NCT00180791	PHASE2	UNKNOWN	High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood
NCT00180947	PHASE2	UNKNOWN	Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse
NCT00404495	PHASE2	COMPLETED	Combination of Irinotecan and Temozolomide in Children With Brain Tumors.
NCT00407433	PHASE2	COMPLETED	Clinical Studies of Gemcitabine-Oxaliplatin
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT00601003	PHASE2	COMPLETED	Study of Nifurtimox to Treat Refractory or Relapsed Neuroblastoma or Medulloblastoma
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01217437	PHASE2	COMPLETED	Temozolomide and Irinotecan Hydrochloride With or Without Bevacizumab in Treating Young Patients With Recurrent or Refractory Medulloblastoma or CNS Primitive Neuroectodermal Tumors
NCT01326104	PHASE2	COMPLETED	Vaccine Immunotherapy for Recurrent Medulloblastoma and Primitive Neuroectodermal Tumor
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01542736	PHASE2	COMPLETED	Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET)
NCT01708174	PHASE2	COMPLETED	A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB)
NCT01857453	PHASE2	UNKNOWN	Interest of a Dose Decrease for Radiotherapy Associated With Chemotherapy for Treatment of Standard Risk Adult Medulloblastomas
NCT01878617	PHASE2	ACTIVE_NOT_RECRUITING	A Clinical and Molecular Risk-Directed Therapy for Newly Diagnosed Medulloblastoma
NCT02017964	PHASE2	COMPLETED	Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma
NCT02441062	PHASE2	COMPLETED	Impact of Ga-68 DOTATOC PET-CT Imaging in Management of Neuroendocrine Tumors
NCT02624388	PHASE2	TERMINATED	Study of Genistein in Pediatric Oncology Patients (UVA-Gen001)
NCT02681705	PHASE2	UNKNOWN	Radiation Therapy and Combination Chemotherapy for Medulloblastoma
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT02724579	PHASE2	ACTIVE_NOT_RECRUITING	Reduced Craniospinal Radiation Therapy and Chemotherapy in Treating Younger Patients With Newly Diagnosed WNT-Driven Medulloblastoma
NCT03013387	PHASE2	WITHDRAWN	Dosimetry Guided PRRT With 90Y-DOTATOC
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)
NCT03173950	PHASE2	COMPLETED	Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers
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)
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)
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)