EXT1

Summary

EXT1 (exostosin glycosyltransferase 1, HGNC:3512) is a protein-coding gene on chromosome 8q24.11, encoding Exostosin-1 (Q16394). Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone. It is a selective cancer dependency (DepMap: 16.4% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.

Source: NCBI Gene 2131 — RefSeq curated summary.

At a glance

• Gene–disease (curated): exostoses, multiple, type 1 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 15
• Clinical variants (ClinVar): 1,272 total — 479 pathogenic, 54 likely-pathogenic
• Phenotypes (HPO): 101
• Cancer dependency (DepMap): dependent in 16.4% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000127

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3512
Approved symbol	EXT1
Name	exostosin glycosyltransferase 1
Location	8q24.11
Locus type	gene with protein product
Status	Approved
Aliases	ttv
Ensembl gene	ENSG00000182197
Ensembl biotype	protein_coding
OMIM	608177
Entrez	2131

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 nonsense_mediated_decay, 1 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000378204, ENST00000436216, ENST00000437196, ENST00000684189, ENST00000684443

RefSeq mRNA: 1 — MANE Select: NM_000127 NM_000127

CCDS: CCDS6324

Canonical transcript exons

ENST00000378204 — 11 exons

Exon	Start	End
ENSE00001326832	117837108	117837201
ENSE00001476659	117794490	117799897
ENSE00001476785	118110085	118111826
ENSE00003465486	117812872	117812961
ENSE00003488748	117822465	117822597
ENSE00003534243	117830230	117830349
ENSE00003560341	117807217	117807377
ENSE00003593271	117804722	117804893
ENSE00003679143	117819676	117819794
ENSE00003688421	117835444	117835551
ENSE00003692259	117818435	117818530

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 97.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.0612 / max 484.8019, expressed in 1721 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94576	47.1982	1720
94575	1.8630	817

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.98	gold quality
saphenous vein	UBERON:0007318	97.46	gold quality
descending thoracic aorta	UBERON:0002345	97.28	gold quality
thoracic aorta	UBERON:0001515	97.27	gold quality
ascending aorta	UBERON:0001496	97.24	gold quality
right coronary artery	UBERON:0001625	96.34	gold quality
aorta	UBERON:0000947	95.88	gold quality
jejunal mucosa	UBERON:0000399	95.36	gold quality
ventricular zone	UBERON:0003053	94.85	gold quality
popliteal artery	UBERON:0002250	94.83	gold quality
tibial artery	UBERON:0007610	94.83	gold quality
duodenum	UBERON:0002114	94.60	gold quality
coronary artery	UBERON:0001621	94.11	gold quality
blood vessel layer	UBERON:0004797	94.11	gold quality
cartilage tissue	UBERON:0002418	94.02	gold quality
left coronary artery	UBERON:0001626	93.91	gold quality
vena cava	UBERON:0004087	93.65	gold quality
oocyte	CL:0000023	93.57	gold quality
tendon of biceps brachii	UBERON:0008188	93.53	gold quality
nipple	UBERON:0002030	93.46	gold quality
colonic mucosa	UBERON:0000317	93.30	gold quality
periodontal ligament	UBERON:0008266	93.24	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.18	gold quality
islet of Langerhans	UBERON:0000006	93.02	gold quality
secondary oocyte	CL:0000655	92.98	gold quality
rectum	UBERON:0001052	92.69	gold quality
visceral pleura	UBERON:0002401	92.23	gold quality
liver	UBERON:0002107	92.16	gold quality
tibia	UBERON:0000979	91.67	gold quality
colonic epithelium	UBERON:0000397	91.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.22

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RUNX2, TRPS1, USF1

miRNA regulators (miRDB)

59 targeting EXT1, 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-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-153-3P	98.96	72.51	1644
HSA-MIR-1294	98.91	69.26	1030

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 16.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• mutational analysis; genotype-phenotype correlation (PMID:11432960)
• deletion mutation of EXT1 is associated with autism in two patients with hereditary multiple exostoses (PMID:12032595)
• EXT1 alone and the EXT1/2 heterocomplex can act as heparan sulfate polymerases in vitro without the addition of additional auxiliary proteins (PMID:12907669)
• EXT1 function is abrogated in human cancer cells by transcriptional silencing associated with CpG island promoter hypermethylation. The epigenetic inactivation of EXT1, a glycosyltransferase, leads to the loss of heparan sulfate synthesis (PMID:15385438)
• Variations in EXT1 gene is associated with multiple osteochondromas (PMID:15586175)
• Promoter methylation was not detected in any of the chondrosarcoma cases in EXT1. (PMID:15796962)
• ANovel heterozygous acceptor splice site mutation of EXT1 results in hereditary multiple exostosis(HME) associated with low peak bone mass. Possible additional role for EXT1 in bone biology and in regulating bone density. (PMID:15985493)
• analysis of multiple osteochondroma-related mutations in EXT1 and EXT2 (PMID:16088908)
• We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G>A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene)in hereditary multiple exostoses (PMID:16638657)
• Detection of mutations in EXT1 gene can significantly improve the identification of both point-mutations and mid-size rearrangemements in osteochrondromas. (PMID:17301954)
• EXT1 functions as a classical tumor suppressor gene in the cartilage cap of nonhereditary osteochondromas. (PMID:17341731)
• Hereditary multiple exostosis patients with mutations in EXT1 gene have more anatomic abnormality and burden than those with EXT2 mutations. (PMID:17589361)
• The hEXT1 gene was able to rescue a ttv null mutant to adulthood and restore glycosaminoglycan biosynthesis. (PMID:17610078)
• EXT1 mutations are associated with a more severe hereditary multiple exostoses phenotype than other EXT forms. (PMID:17676624)
• capacity of wild type EXT2 to enhance heparan sulfate chain length together with EXT1 was not shared by the EXT2-Y419X mutant (PMID:17761672)
• mutation associated with familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses (PMID:18216313)
• identified a novel heterozygous 1 bp deletion in the exon 1 (c.529_531delA) leading to a premature codon stop and truncated EXT1 protein expression (p.Lys177LysfsX15) (PMID:18330718)
• found EXT1 to be responsible in seven families (19 affected members) and EXT2 in four families (17 affected members) with multiple osteochondromas (PMID:18373409)
• Novel mutation in the EXT1 gene in an Iranian family affected with multiple hereditary exostoses is reported. (PMID:18810975)
• detected mutations in EXT1 or EXT2 in 30 (70%) out of 43 families. results suggest the presence of other gene(s) responsible for multiple osteochondromas, at least in Japanese patients (PMID:18976157)
• The tumor suppressor gene EXT1 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. (PMID:19179614)
• Mutation screening in EXT1 revealed a novel frameshift mutation, a single base deletion in exon 1 (c.142delC), in an Indian pedigree of hereditary multiple exostoses families. (PMID:19309273)
• Novel mutations have been identified in the EXT1 and the EXT2 gene in 17 Multiple Osteochondromas patients. (PMID:19344451)
• Two novel EXT1 gene mutations and two novel EXT2 gene mutations were identified in two and three hereditary multiple exostoses pedigrees, respectively. (PMID:19839753)
• A novel EXT1 gene mutation causing hereditary multiple exostoses occurred in a Chinese family. (PMID:20025490)
• results clearly indicate that, in most cases, biallelic inactivation of EXT genes does not account for osteochondromas formation; this mechanism should be regarded as a common feature for hereditary osteochondromas transformation (PMID:20418910)
• This heterozygous mutation in the EXT1 gene must be classified as pathogenic and can be regarded as the cause of hereditary multiple exostosis (HME) in this Chinese family. (PMID:20578942)
• we found a splice site mutation in the EXT1 gene intron 5 (IVS5-2 A > G) resulting in the deletion of 9 bp of cDNA encoding three evolutionarily conserved amino acid residues. This child patient suffered from a severe form of exostoses. (PMID:20618940)
• Loss of heterozygosity for EXT1 is associated with multiple osteochondromas. (PMID:20813973)
• 8 novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses were identified. (PMID:21039224)
• Out of the 17 patient samples with previously undetected mutations, a low level of deletion of the EXT1 gene in about 10-15% of the blood cells was detected in two patients and mosaic deletion of the EXT2 was detected in one patient. (PMID:21280143)
• Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis. (PMID:21499719)
• Molecular characterization of EXT1- and EXT2-deletion breakpoints in multiple osteochondroma indicates that non-allelic homologous recombination between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring. (PMID:21703028)
• A polymorphic G/C-SNP at -1158 bp (rs34016643) was demonstrated to be located in a USF1 transcription factor binding site, which is lost with the presence of the C-allele resulting in a ~56% increase in EXT1 promoter activity. (PMID:22037484)
• Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene in two families with multiple osteochodromas. (PMID:22040554)
• A novel nonsense mutation of EXT1 gene found in patient diagnosed with multiple hereditary exostoses. (PMID:22637216)
• analysis of novel pathogenic mutations in EXT1 and EXT2 that may have roles in multiple osteochondroma in Chinese patients (PMID:22820392)
• 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis. (PMID:23262345)
• Results indicate that intronic deletion and duplication of EXT1 as a causative mechanism for multiple osteochondromas (MO) not detected by conventional diagnostic methods. (PMID:23341036)
• we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel. (PMID:23439489)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ext1b	ENSDARG00000101019
danio_rerio	ext1a	ENSDARG00000103155
mus_musculus	Ext1	ENSMUSG00000061731
rattus_norvegicus	Ext1	ENSRNOG00000024886

Paralogs (4): EXTL3 (ENSG00000012232), EXT2 (ENSG00000151348), EXTL1 (ENSG00000158008), EXTL2 (ENSG00000162694)

Protein

Protein identifiers

Exostosin-1 — Q16394 (reviewed: Q16394)

Alternative names: Exostosin glycosyltransferase 1, Heparan sulfate co-polymerase subunit EXT1, Multiple exostoses protein 1, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

All UniProt accessions (3): Q16394, F8WF54, H7C1H6

UniProt curated annotations — full annotation on UniProt →

Function. Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signaling.

Subunit / interactions. Part of the heparan sulfate polymerase, a dimeric complex composed of EXT1 and EXT2. Could also form homooligomeric complexes. Interacts with NDST1.

Subcellular location. Golgi apparatus membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum membrane.

Tissue specificity. Widely expressed.

Post-translational modifications. N-glycosylated.

Disease relevance. Hereditary multiple exostoses 1 (EXT1) [MIM:133700] EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. The disease is caused by variants affecting the gene represented in this entry. Chondrosarcoma (CHDSA) [MIM:215300] A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 47 family.

RefSeq proteins (1): NP_000118* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004263	Exostosin	Family
IPR015338	GT64_dom	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR040911	Exostosin_GT47	Domain

Pfam: PF03016, PF09258

Enzyme classification (BRENDA):

• EC 2.4.1.224 — glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase (BRENDA: 10 organisms, 19 substrates, 0 inhibitors, 8 Km, 0 kcat entries)
• EC 2.4.1.225 — N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase (BRENDA: 9 organisms, 7 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-N-ACETYL-D-GLUCOSAMINE	0.094–1.2	4
(MANNOSE)9-N-ACETYL-D-GLUCOSAMINE	0.65	1
[D-GLUCURONIC ACID-N-ACETYL-GLUCOSAMINE]14 -D-GL	0.006	1
[D-GLUCURONIC ACID-N-ACETYL-GLUCOSAMINE]4 -D-GLU	0.06	1

Catalyzed reactions (Rhea), 1 shown:

• 3-O-{alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-{(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP + H(+) (RHEA:20908)

UniProt features (137 total): strand 35, helix 24, mutagenesis site 24, sequence variant 16, turn 15, binding site 11, disulfide bond 5, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7SCK	ELECTRON MICROSCOPY	2.8
7ZAY	ELECTRON MICROSCOPY	2.8
7UQY	ELECTRON MICROSCOPY	3
7SCH	ELECTRON MICROSCOPY	3.1
7UQX	ELECTRON MICROSCOPY	3.3
7SCJ	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16394-F1	84.67	0.66

Functional residue map

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

Ligand- & substrate-binding residues (11): 300; 319; 324; 346; 349; 166; 203; 267; 269; 271; 280

Disulfide bonds (5): 98–103, 109–152, 298–312, 334–355, 652–704

Glycosylation sites (2): 89, 330

Mutagenesis-validated functional residues (24):

Position	Phenotype
27	no effect on heparan sulfate proteoglycan biosynthetic process.
162	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; when associated with n-164.
164	loss of heparan sulfate proteoglycan biosynthetic process.
164	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; when associated with n-162.
269	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylglu
280	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity.
316	no effect on heparan sulfate proteoglycan biosynthetic process.
340	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylglu
341	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylglu
346	loss of n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylglu
486	no effect on heparan sulfate proteoglycan biosynthetic process.
496	no effect on heparan sulfate proteoglycan biosynthetic process.
565	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg
565	decreased glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity; when associat
567	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg
567	decreased glucuronosyl-n-acetylglucosaminyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase activity; when associat
595	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg
612	decreased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg
692	increased n-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity. no effect on glucuronosyl-n-acetylg

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2022928	HS-GAG biosynthesis
R-HSA-3656237	Defective EXT2 causes exostoses 2
R-HSA-3656253	Defective EXT1 causes exostoses 1, TRPS2 and CHDS

MSigDB gene sets: 769 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, FREAC2_01, GOBP_NEURON_RECOGNITION, GOBP_CELLULAR_RESPONSE_TO_VIRUS, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_DENDRITIC_CELL_MIGRATION, GOBP_BEHAVIOR

GO Biological Process (122): polysaccharide biosynthetic process (GO:0000271), ossification (GO:0001503), endochondral ossification (GO:0001958), blood vessel remodeling (GO:0001974), glandular epithelial cell differentiation (GO:0002067), hypersensitivity (GO:0002524), heart field specification (GO:0003128), outflow tract morphogenesis (GO:0003151), chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413), chondrocyte hypertrophy (GO:0003415), endochondral bone growth (GO:0003416), glycosaminoglycan biosynthetic process (GO:0006024), vacuole organization (GO:0007033), axon guidance (GO:0007411), endoderm development (GO:0007492), regulation of blood pressure (GO:0008217), fibroblast growth factor receptor signaling pathway (GO:0008543), response to light intensity (GO:0009642), gene expression (GO:0010467), regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803), neural crest cell differentiation (GO:0014033), heparan sulfate proteoglycan biosynthetic process (GO:0015012), stem cell division (GO:0017145), antigen processing and presentation (GO:0019882), optic nerve development (GO:0021554), olfactory bulb development (GO:0021772), protein catabolic process (GO:0030163), collagen fibril organization (GO:0030199), heparin proteoglycan biosynthetic process (GO:0030210), BMP signaling pathway (GO:0030509), hair follicle morphogenesis (GO:0031069), glomerular basement membrane development (GO:0032836), cell adhesion mediated by integrin (GO:0033627), social behavior (GO:0035176), synaptic transmission, glutamatergic (GO:0035249), multicellular organism growth (GO:0035264), chondrocyte proliferation (GO:0035988), embryonic skeletal limb joint morphogenesis (GO:0036023), dendritic cell migration (GO:0036336), lymphocyte adhesion to endothelial cell of high endothelial venule (GO:0036339)

GO Molecular Function (11): acetylglucosaminyltransferase activity (GO:0008375), glucuronosyltransferase activity (GO:0015020), heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), protein heterodimerization activity (GO:0046982), glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508), N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), synapse (GO:0045202), catalytic complex (GO:1902494), membrane (GO:0016020), organelle membrane (GO:0031090)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Diseases associated with glycosaminoglycan metabolism	2
Heparan sulfate/heparin (HS-GAG) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macromolecule biosynthetic process	2
endochondral bone morphogenesis	2
UDP-glycosyltransferase activity	2
hexosyltransferase activity	2
acetylglucosaminyltransferase activity	2
protein dimerization activity	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
polysaccharide metabolic process	1
carbohydrate biosynthetic process	1
multicellular organismal process	1
replacement ossification	1
tissue remodeling	1
columnar/cuboidal epithelial cell differentiation	1
acute inflammatory response to antigenic stimulus	1
specification of animal organ identity	1
heart formation	1
heart morphogenesis	1
anatomical structure morphogenesis	1
chondrocyte differentiation	1
cartilage development involved in endochondral bone morphogenesis	1
chondrocyte development	1
developmental cell growth	1
bone growth	1
aminoglycan biosynthetic process	1
glycosaminoglycan metabolic process	1
organelle organization	1
axonogenesis	1
neuron projection guidance	1
tissue development	1
blood circulation	1
regulation of biological quality	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
response to light stimulus	1
regulation of cytokine-mediated signaling pathway	1
tumor necrosis factor-mediated signaling pathway	1
identical protein binding	1
cation binding	1

Protein interactions and networks

STRING

1256 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXT1	EXT2	Q93063	986
EXT1	TRPS1	Q9UHF7	931
EXT1	NDST1	P52848	879
EXT1	HS2ST1	Q7LGA3	802
EXT1	NDST2	P52849	747
EXT1	ANXA13	P27216	742
EXT1	IHH	Q14623	741
EXT1	THSD7A	Q9UPZ6	712
EXT1	CSMD3	Q7Z407	708
EXT1	GLCE	O94923	701
EXT1	TRAP1	Q12931	697
EXT1	HS6ST1	O60243	678
EXT1	HS3ST1	O14792	663
EXT1	B3GAT3	O94766	652
EXT1	B4GALT7	Q9UBV7	645

IntAct

100 interactions, top by confidence:

A	B	Type	Score
EXT1	EXT2	psi-mi:“MI:2364”(proximity)	0.890
EXT1	EXT2	psi-mi:“MI:0407”(direct interaction)	0.890
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
GAA	B3GAT3	psi-mi:“MI:0914”(association)	0.530
NRROS	NDUFA3	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
HLA-DRA	ENTPD6	psi-mi:“MI:0914”(association)	0.530
TMEM106A	B4GALT3	psi-mi:“MI:0914”(association)	0.530
	EXT1	psi-mi:“MI:0559”(glycosylation reaction)	0.440
EXT1	GPC1	psi-mi:“MI:0559”(glycosylation reaction)	0.440
EXT1	NDST1	psi-mi:“MI:2364”(proximity)	0.380
EXT1	NDST1	psi-mi:“MI:0403”(colocalization)	0.380
FBXW7	EXT1	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (93): EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS), EXT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8C2LVE3, A0MGZ5, A0MGZ7, A4IID1, A5D7I4, A9X1C8, O08889, O12971, O60243, O93336, O97583, P0DJQ9, P52849, P52850, P61642, P69478, P97464, Q16394, Q56UJ5, Q5IGR7, Q5IGR8, Q5R621, Q5RBC3, Q5U4X8, Q6GQK9, Q6KFX9, Q6ZXD2, Q76KB1, Q76KB2, Q7LFX5, Q7LGA3, Q7T3S3, Q800H9, Q80UW0, Q86V40, Q8CHI9, Q8IZP7, Q8R3H7, Q91XQ5, Q91ZB4

Diamond homologs: A5D7I4, A9X1C8, O01704, O77783, P70428, P97464, Q16394, Q33AH8, Q5IGR6, Q5IGR7, Q5IGR8, Q5RBC3, Q84WB7, Q92935, Q93063, Q9C975, Q9ES89, Q9JK82, Q9JKV7, Q9LY62, Q9SSE8, Q9UBQ6, Q9V730, Q9XZ08, Q9Y169, A9RGD8, Q10SX7, Q3E9A4, Q3EAR7, Q6H4N0, Q6NMM8, Q7XLG3, Q8S1X7, Q8S1X8, Q8S1X9, Q940Q8, Q94AA9, Q9FFN2, Q9FZJ1, Q9LFP3

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
EXT1	“form complex”	EXT1/EXT2	binding
EXT1	“up-regulates activity”	BMP4
EXT1	“up-regulates activity”	WNT8A
EXT1	“up-regulates activity”	WNT8B

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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
HS-GAG biosynthesis	6	31.5×	1e-05
Glycosaminoglycan metabolism	5	16.6×	1e-03
Metabolism of carbohydrates and carbohydrate derivatives	6	10.9×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
heparan sulfate proteoglycan biosynthetic process	6	37.0×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

1272 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	479
Likely pathogenic	54
Uncertain significance	396
Likely benign	217
Benign	46

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1050990	NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)	Pathogenic
1066566	NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)	Pathogenic
1068505	NM_000127.3(EXT1):c.557_558del (p.Asn186fs)	Pathogenic
1068706	NM_000127.3(EXT1):c.1845del (p.Tyr616fs)	Pathogenic
1068794	NM_000127.3(EXT1):c.540_962+399del	Pathogenic
1068987	NM_000127.3(EXT1):c.1522del (p.Gln508fs)	Pathogenic
1069069	NM_000127.3(EXT1):c.1126del (p.Gln376fs)	Pathogenic
1069234	NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)	Pathogenic
1069287	NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)	Pathogenic
1069505	NM_000127.3(EXT1):c.1723-2A>C	Pathogenic
1069692	NM_000127.3(EXT1):c.1998dup (p.Leu667fs)	Pathogenic
1069912	NM_000127.3(EXT1):c.1285-1G>T	Pathogenic
1070211	NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)	Pathogenic
1071748	NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)	Pathogenic
1071829	NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)	Pathogenic
1072962	NC_000008.10:g.(?118819436)(118847810_?)del	Pathogenic
1072963	NC_000008.10:g.(?118811951)(118834836_?)del	Pathogenic
1073473	NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)	Pathogenic
1073635	NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)	Pathogenic
1074978	NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)	Pathogenic
1075400	NM_000127.3(EXT1):c.1906del (p.His636fs)	Pathogenic
1075642	NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)	Pathogenic
1076030	NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)	Pathogenic
1076975	NC_000008.10:g.(?118842449)(118842608_?)del	Pathogenic
1076976	NC_000008.10:g.(?_118825208)_119035925del	Pathogenic
1208138	NM_000127.3(EXT1):c.1536+1G>A	Pathogenic
1329470	NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs)	Pathogenic
1329471	NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs)	Pathogenic
1333161	NM_000127.3(EXT1):c.392dup (p.Tyr131Ter)	Pathogenic
1334335	NM_000127.3(EXT1):c.45_46del (p.Cys16fs)	Pathogenic

SpliceAI

3953 predictions. Top by Δscore:

Variant	Effect	Δscore
8:117804718:TTA:T	donor_loss	1.0000
8:117804719:TAC:T	donor_loss	1.0000
8:117804720:A:AC	donor_gain	1.0000
8:117804720:A:C	donor_loss	1.0000
8:117804720:AC:A	donor_gain	1.0000
8:117804721:C:CT	donor_gain	1.0000
8:117804721:CC:C	donor_gain	1.0000
8:117804721:CCT:C	donor_gain	1.0000
8:117804721:CCTG:C	donor_gain	1.0000
8:117804721:CCTGT:C	donor_gain	1.0000
8:117807210:T:TA	donor_gain	1.0000
8:117807211:CCTCA:C	donor_loss	1.0000
8:117807212:CTCA:C	donor_loss	1.0000
8:117807213:TCA:T	donor_loss	1.0000
8:117807214:CA:C	donor_loss	1.0000
8:117807215:A:AC	donor_gain	1.0000
8:117807215:ACTTG:A	donor_loss	1.0000
8:117807216:C:CC	donor_gain	1.0000
8:117812867:CTTA:C	donor_loss	1.0000
8:117812870:A:AT	donor_loss	1.0000
8:117812871:CCT:C	donor_gain	1.0000
8:117818429:TCTTA:T	donor_loss	1.0000
8:117818430:CTTA:C	donor_loss	1.0000
8:117818431:TTACC:T	donor_loss	1.0000
8:117818432:TA:T	donor_loss	1.0000
8:117818433:ACC:A	donor_loss	1.0000
8:117818434:CCTTG:C	donor_gain	1.0000
8:117818531:C:CC	acceptor_gain	1.0000
8:117822460:CTTA:C	donor_loss	1.0000
8:117822461:TTAC:T	donor_loss	1.0000

AlphaMissense

4950 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:117799739:C:A	K738N	1.000
8:117799739:C:G	K738N	1.000
8:117799742:C:A	R737S	1.000
8:117799742:C:G	R737S	1.000
8:117799743:C:A	R737M	1.000
8:117799743:C:G	R737T	1.000
8:117799766:A:C	F729L	1.000
8:117799766:A:T	F729L	1.000
8:117799768:A:G	F729L	1.000
8:117799770:A:G	L728P	1.000
8:117799784:C:A	R723S	1.000
8:117799784:C:G	R723S	1.000
8:117799785:C:A	R723M	1.000
8:117799785:C:G	R723T	1.000
8:117799803:A:G	L717P	1.000
8:117799841:G:C	C704W	1.000
8:117799842:C:A	C704F	1.000
8:117799842:C:G	C704S	1.000
8:117799842:C:T	C704Y	1.000
8:117799843:A:G	C704R	1.000
8:117799843:A:T	C704S	1.000
8:117799851:C:G	R701P	1.000
8:117799852:G:C	R701G	1.000
8:117799859:A:C	F698L	1.000
8:117799859:A:T	F698L	1.000
8:117799860:A:C	F698C	1.000
8:117799860:A:G	F698S	1.000
8:117799861:A:G	F698L	1.000
8:117799862:G:C	H697Q	1.000
8:117799862:G:T	H697Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000004487 (8:117869564 G>A), RS1000004603 (8:118000726 C>A), RS1000008429 (8:117901847 C>A,T), RS1000011711 (8:117835826 T>C), RS1000028070 (8:117920276 G>A), RS1000028996 (8:118077370 G>A,C), RS1000034505 (8:117878688 C>T), RS1000049560 (8:118106754 A>G), RS1000053381 (8:118072310 T>C), RS1000075775 (8:118045498 G>C,T), RS1000090406 (8:118025888 G>A,C), RS1000096350 (8:118031098 C>A), RS1000098910 (8:117816380 G>A,T), RS1000116381 (8:117803905 G>T), RS1000122394 (8:117983472 A>G)

Disease associations

OMIM: gene MIM:608177 | disease phenotypes: MIM:133700, MIM:215300, MIM:167000, MIM:162200

GenCC curated gene-disease

Disease	Classification	Inheritance
exostoses, multiple, type 1	Definitive	Autosomal dominant
chondrosarcoma	Strong	Autosomal dominant
hereditary multiple osteochondromas	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
exostoses, multiple, type 1	Definitive	AD

Mondo (9): hereditary multiple osteochondromas (MONDO:0005508), chondrosarcoma (MONDO:0008977), exostoses, multiple, type 1 (MONDO:0007585), microcephaly (MONDO:0001149), ovarian cancer (MONDO:0008170), childhood neoplasm (MONDO:0021079), neurofibromatosis type 1 (MONDO:0018975), exostosis (MONDO:0002181), breast cancer (MONDO:0007254)

Orphanet (4): Multiple osteochondromas (Orphanet:321), Chondrosarcoma (Orphanet:55880), Rare ovarian cancer (Orphanet:213500), Neurofibromatosis type 1 (Orphanet:636)

HPO phenotypes

101 total (30 of 101 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000076	Vesicoureteral reflux
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000405	Conductive hearing impairment
HP:0000411	Protruding ear
HP:0000414	Bulbous nose
HP:0000431	Wide nasal bridge
HP:0000574	Thick eyebrow
HP:0000896	Rib exostoses
HP:0000918	Scapular exostoses
HP:0001156	Brachydactyly
HP:0001191	Abnormal carpal morphology
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001369	Arthritis
HP:0001373	Joint dislocation
HP:0001376	Limitation of joint mobility
HP:0001382	Joint hypermobility
HP:0001385	Hip dysplasia
HP:0001442	Typified by somatic mosaicism
HP:0001510	Growth delay
HP:0001582	Redundant skin
HP:0001850	Abnormality of the tarsal bones

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000522_12	Height	6.000000e-06
GCST001762_804	Obesity-related traits	2.000000e-06
GCST002828_29	Urate levels in obese individuals	8.000000e-06
GCST004520_1	Autism spectrum disorder	2.000000e-06
GCST005183_3	Common carotid intima-media thickness	8.000000e-07
GCST005184_5	Common carotid intima-media thickness in HIV infection	3.000000e-07
GCST005976_4	White blood cell count (basophil)	4.000000e-16
GCST006186_6	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	2.000000e-09
GCST006195_87	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-09
GCST006269_814	General cognitive ability	9.000000e-09
GCST006427_7	Depression in smokers	2.000000e-06
GCST006466_4	Endometrial cancer (Non-endometrioid histology)	6.000000e-07
GCST007820_1	Facial attractiveness (female raters)	4.000000e-07
GCST009524_174	Household income (MTAG)	1.000000e-08
GCST010988_308	Adult body size	3.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0005090	basophil count
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0004337	intelligence
EFO:0009892	facial attractiveness measurement
EFO:0009695	household income

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D002813	Chondrosarcoma	C04.557.450.565.280; C04.557.450.795.300
D005097	Exostoses, Multiple Hereditary	C04.557.450.565.575.610.615.325; C04.700.330; C05.116.099.708.670.615.325; C05.116.540.310.500; C16.320.700.330
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	7
Benzo(a)pyrene	decreases expression, increases methylation	4
trichostatin A	decreases expression, affects cotreatment	3
bisphenol A	increases expression, decreases methylation	2
Panobinostat	affects cotreatment, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, affects methylation, increases abundance	2
Cisplatin	affects cotreatment, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
Particulate Matter	increases abundance, affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
TL8-506	affects cotreatment, increases expression	1
methylselenic acid	increases expression	1
salinomycin	decreases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
ON 01910	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
gardiquimod	increases expression, decreases reaction	1
7-(benzylamino)-1,3,4,8-tetrahydropyrrolo(4,3,2-de)quinolin-8(1H)-one	increases expression	1
picoxystrobin	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_5058	SNU-407	Cancer cell line	Male
CVCL_A1NC	SMBCi010-A	Induced pluripotent stem cell	Male
CVCL_SM60	HAP1 EXT1 (-) 1	Cancer cell line	Male
CVCL_SM61	HAP1 EXT1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
NCT01932125	PHASE4	COMPLETED	An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer
NCT01953107	PHASE4	COMPLETED	Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates.
NCT02035345	PHASE4	TERMINATED	Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment
NCT02243059	PHASE4	WITHDRAWN	Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer
NCT03164980	PHASE4	TERMINATED	QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03543462	PHASE4	COMPLETED	Diaphragmatic Resection And Gynecological Ovarian Neoplasm
NCT03752216	PHASE4	COMPLETED	NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib.
NCT03858166	PHASE4	TERMINATED	Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer
NCT04024254	PHASE4	COMPLETED	A Study of Serum Folate Levels in Patients Treated With Olaparib
NCT04330040	PHASE4	COMPLETED	Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
NCT04352439	PHASE4	COMPLETED	Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy
NCT05187208	PHASE4	UNKNOWN	PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer
NCT05606692	PHASE4	RECRUITING	Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics)
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06412120	PHASE4	RECRUITING	Study Evaluating Safety, Tolerability, and Metabolism of Niraparib
NCT06871787	PHASE4	NOT_YET_RECRUITING	Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery
NCT06887933	PHASE4	NOT_YET_RECRUITING	A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer
NCT07469202	PHASE4	NOT_YET_RECRUITING	CYTALUX Dose Extension Study
NCT01182753	PHASE3	UNKNOWN	Trial of Proton Versus Carbon Ion Radiation Therapy in Patients With Low and Inter-mediate Grade Chondrosarcoma of the Skull Base
NCT00001806	PHASE3	COMPLETED	Methods in Education for Breast Cancer Genetics
NCT00002477	PHASE3	UNKNOWN	Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer
NCT00002568	PHASE3	COMPLETED	Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002717	PHASE3	COMPLETED	Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00002819	PHASE3	TERMINATED	Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer
NCT00002894	PHASE3	COMPLETED	Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer
NCT00002895	PHASE3	COMPLETED	Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer
NCT00003120	PHASE3	COMPLETED	S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission
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