BSN

Summary

BSN (bassoon presynaptic cytomatrix protein, HGNC:1117) is a protein-coding gene on chromosome 3p21.31, encoding Protein bassoon (Q9UPA5). Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released.

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses.

Source: NCBI Gene 8927 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epilepsy (Strong, GenCC)
• GWAS associations: 50
• Clinical variants (ClinVar): 800 total — 3 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_003458

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1117
Approved symbol	BSN
Name	bassoon presynaptic cytomatrix protein
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000164061
Ensembl biotype	protein_coding
OMIM	604020
Entrez	8927

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000296452, ENST00000467456

RefSeq mRNA: 1 — MANE Select: NM_003458 NM_003458

CCDS: CCDS2800

Canonical transcript exons

ENST00000296452 — 12 exons

Exon	Start	End
ENSE00001080987	49663787	49663886
ENSE00001080992	49624975	49625383
ENSE00001080993	49664423	49664554
ENSE00001080995	49662876	49663666
ENSE00001080996	49660486	49662562
ENSE00001167261	49665229	49665318
ENSE00001167312	49664799	49664853
ENSE00001167315	49554477	49554826
ENSE00001207748	49667590	49671549
ENSE00001231620	49651543	49658196
ENSE00001231624	49650612	49651079
ENSE00001231629	49642268	49643152

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 95.15.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3172 / max 327.7387, expressed in 468 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36642	5.2262	466
202755	0.0617	34
36644	0.0293	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
frontal pole	UBERON:0002795	95.15	gold quality
paraflocculus	UBERON:0005351	93.57	gold quality
middle temporal gyrus	UBERON:0002771	92.63	gold quality
postcentral gyrus	UBERON:0002581	92.55	gold quality
superior frontal gyrus	UBERON:0002661	92.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.13	gold quality
orbitofrontal cortex	UBERON:0004167	91.72	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.57	gold quality
parietal lobe	UBERON:0001872	91.37	gold quality
middle frontal gyrus	UBERON:0002702	90.10	gold quality
entorhinal cortex	UBERON:0002728	88.63	gold quality
cerebellum	UBERON:0002037	88.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.21	gold quality
prefrontal cortex	UBERON:0000451	88.12	gold quality
cerebellar cortex	UBERON:0002129	88.06	gold quality
cerebellar hemisphere	UBERON:0002245	87.96	gold quality
frontal cortex	UBERON:0001870	87.63	gold quality
neocortex	UBERON:0001950	86.58	gold quality
right frontal lobe	UBERON:0002810	86.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.27	gold quality
cerebral cortex	UBERON:0000956	85.71	gold quality
primary visual cortex	UBERON:0002436	85.00	gold quality
Brodmann (1909) area 23	UBERON:0013554	84.90	gold quality
cingulate cortex	UBERON:0003027	84.58	gold quality
anterior cingulate cortex	UBERON:0009835	84.52	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.24	gold quality
cerebellar vermis	UBERON:0004720	84.16	gold quality
occipital lobe	UBERON:0002021	84.11	gold quality
temporal lobe	UBERON:0001871	83.35	gold quality
cortical plate	UBERON:0005343	83.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

271 targeting BSN, 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-8485	100.00	77.57	4731
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-8068	99.98	73.85	2376
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790

Literature-anchored findings (GeneRIF, showing 12)

• Loss of Bassoon in Bsn mutant mice causes a reduction in normal synaptic transmission, which can be attributed to the inactivation of a significant fraction of glutamatergic synapses. (PMID:12628169)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• The effect of BSN-MST1 locus on Crohn’s disease predisposition was replicated, but no influence on ulcerative colitis or multiple sclerosis predisposition could be detected (PMID:19657358)
• Short-term synaptic depression is enhanced in Bassoon knockout mice, but synaptic transmission is unaffected. (PMID:21092860)
• Bassoon protein and the synaptic ribbon create a large number of release sites by organizing calcium channels and synaptic vesicles. (PMID:21092861)
• D-amino acid oxidase activity is inhibited by an interaction with bassoon protein at the presynaptic active zone. (PMID:21700703)
• Three missense mutations in BSN that are very rarely listed in databases of healthy subjects were found in four sporadic progressive supranuclear palsy cases. Western blot analysis of tau following the overexpression of wild-type or mutated BSN revealed the possibility that wild-type BSN reduced tau accumulation, while mutated BSN lost this function. (PMID:29339765)
• No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease. (PMID:32493491)
• Bassoon inhibits proteasome activity via interaction with PSMB4. (PMID:32651614)
• Variants in BSN gene associated with epilepsy with favourable outcome. (PMID:36600631)
• Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease. (PMID:38575728)
• This paper describes the structure of the mouse and rat Bsn genes, and characterizes the subcellular distribution of the Bassoon protein. (PMID:9679147)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bsnb	ENSDARG00000079161
danio_rerio	BSN	ENSDARG00000111110
mus_musculus	Bsn	ENSMUSG00000032589
rattus_norvegicus	Bsn	ENSRNOG00000030714
caenorhabditis_elegans		WBGENE00018468

Paralogs (1): PCLO (ENSG00000186472)

Protein

Protein identifiers

Protein bassoon — Q9UPA5 (reviewed: Q9UPA5)

Alternative names: Zinc finger protein 231

All UniProt accessions (1): Q9UPA5

UniProt curated annotations — full annotation on UniProt →

Function. Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released. After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts. At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis. Also functions in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy by associating with ATG5. Also mediates synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import. Inhibits the activity of the proportion of DAO enzyme that localizes to the presynaptic active zone, which may modulate synaptic transmission.

Subunit / interactions. Interacts with PCLO, ERC2/CAST1, RIMS1 and UNC13A. Interacts with TPRG1L. Interacts with DYNLL1 and DYNLL2; these interactions potentially link PTVs to dynein and myosin V motor complexes. Interacts with ATG5; this interaction is important for the regulation of presynaptic autophagy. Interacts (via C-terminus) with TRIO (via N-terminus). Interacts with CTBP1. Interacts with SIAH1; this interaction negatively regulates SIAH1 E3 ligase activity. Interacts (via coiled region) with DAO; the interaction is direct.

Subcellular location. Cytoplasm. Presynaptic active zone. Cytoskeleton. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane.

Tissue specificity. Exclusively expressed in brain.

Post-translational modifications. Myristoylated. The N-terminal myristoylation is not sufficient for presynaptic localization.

RefSeq proteins (1): NP_003449* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008899	Znf_piccolo	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR030627	Bsn_FYVE_dom	Domain
IPR052098	Presynaptic_Scaffold_Bsn/Pclo	Family

Pfam: PF05715

UniProt features (131 total): compositionally biased region 48, modified residue 39, region of interest 20, glycosylation site 5, coiled-coil region 5, zinc finger region 4, sequence variant 3, repeat 3, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q9UPA5 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (40): 1801, 1801, 1813, 1985, 2041, 2046, 2076, 2250, 2260, 2266, 2570, 2587, 2614, 2802, 2851, 2857, 3013, 3291, 3373, 3492 …

Glycosylation sites (5): 1343, 1384, 2314, 2691, 2936

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea
R-HSA-9659379	Sensory processing of sound
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): chemical synaptic transmission (GO:0007268), protein localization to synapse (GO:0035418), modulation of chemical synaptic transmission (GO:0050804), synaptic vesicle clustering (GO:0097091), regulation of synaptic vesicle cycle (GO:0098693), presynaptic active zone assembly (GO:1904071), maintenance of presynaptic active zone structure (GO:0048790)

GO Molecular Function (4): enzyme inhibitor activity (GO:0004857), zinc ion binding (GO:0008270), structural constituent of presynaptic active zone (GO:0098882), metal ion binding (GO:0046872)

GO Cellular Component (23): nucleus (GO:0005634), synaptic vesicle (GO:0008021), cell surface (GO:0009986), postsynaptic density (GO:0014069), axon (GO:0030424), dendrite (GO:0030425), synaptic vesicle membrane (GO:0030672), neuron projection terminus (GO:0044306), presynaptic active zone (GO:0048786), cytoskeleton of presynaptic active zone (GO:0048788), excitatory synapse (GO:0060076), cochlear hair cell ribbon synapse (GO:0098683), Schaffer collateral - CA1 synapse (GO:0098685), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995), organelle (GO:0043226), synapse (GO:0045202), presynapse (GO:0098793)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Sensory processing of sound	1
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
synapse	4
neuron projection	3
synaptic vesicle cycle	2
presynaptic active zone organization	2
presynapse	2
anterograde trans-synaptic signaling	1
protein localization to cell junction	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
synaptic vesicle localization	1
regulation of vesicle-mediated transport	1
cellular component assembly	1
presynapse assembly	1
maintenance of synapse structure	1
catalytic activity	1
enzyme regulator activity	1
molecular function inhibitor activity	1
transition metal ion binding	1
presynaptic active zone	1
maintenance of presynaptic active zone structure	1
structural constituent of synapse	1
cation binding	1
intracellular membrane-bounded organelle	1
exocytic vesicle	1
asymmetric synapse	1
postsynaptic specialization	1
dendritic tree	1
synaptic vesicle	1
exocytic vesicle membrane	1
cortical cytoskeleton	1
presynaptic active zone cytoplasmic component	1
presynaptic cytoskeleton	1
ribbon synapse	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

2012 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BSN	SYBU	Q9NX95	831
BSN	KIF5B	P33176	772
BSN	ATG5	Q9H1Y0	706
BSN	STX1A	Q16623	683
BSN	SNPH	O15079	668
BSN	CTBP2	P56545	666
BSN	ERC2	O15083	639
BSN	NSF	P46459	582
BSN	GRIN2B	Q13224	548
BSN	GRIN2A	Q12879	518
BSN	TMEM169	Q96HH4	491
BSN	RIMS1	Q86UR5	473
BSN	DLG4	P78352	472
BSN	RNF38	Q9H0F5	433
BSN	CACNA1F	O60840	432

IntAct

12 interactions, top by confidence:

A	B	Type	Score
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
USP7	BSN	psi-mi:“MI:0407”(direct interaction)	0.440
ARRB2		psi-mi:“MI:0914”(association)	0.350
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
KATNIP		psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
RIMS1	PSMD12	psi-mi:“MI:0914”(association)	0.350
CNTROB	CNOT1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (36): BSN (Proximity Label-MS), ATG5 (Affinity Capture-Western), BSN (Affinity Capture-Western), ERC2 (Affinity Capture-Western), RIMS1 (Affinity Capture-Western), UNC13A (Affinity Capture-Western), RAB3A (Affinity Capture-Western), BSN (Affinity Capture-RNA), BSN (Affinity Capture-MS), BSN (Affinity Capture-MS), BSN (Affinity Capture-MS), BSN (Proximity Label-MS), BSN (Affinity Capture-MS), BSN (Affinity Capture-MS), BSN (Protein-peptide)

ESM2 similar proteins: A1L170, A2A7S8, A2AI08, A2ALU4, A2VE02, A5D7K1, A6NGG8, B1AXH1, D3ZMK9, F1QGH6, O88737, O88778, P01099, Q13796, Q2NL68, Q3KP66, Q499V8, Q571I4, Q5HYW2, Q5JTC6, Q5RBH3, Q5SX79, Q5T0Z8, Q5XHX2, Q6PAC4, Q7TP36, Q7TSA6, Q7TT28, Q7Z591, Q80VW7, Q86WR7, Q86YV5, Q8BI29, Q8BRV5, Q8C5R2, Q8IVT2, Q8IY33, Q8R080, Q8TF72, Q91Z58

Diamond homologs: O88737, O88778, Q9UPA5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	693
Likely benign	69
Benign	16

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
4082347	NM_003458.4(BSN):c.2623C>T (p.Gln875Ter)	Pathogenic
4279029	NM_003458.4(BSN):c.3335del (p.Ala1112fs)	Pathogenic
4279030	NM_003458.4(BSN):c.5886del (p.Pro1963fs)	Pathogenic
3376717	NM_003458.4(BSN):c.10255C>T (p.Gln3419Ter)	Likely pathogenic
4845607	NM_003458.4(BSN):c.5326C>T (p.Gln1776Ter)	Likely pathogenic

SpliceAI

2202 predictions. Top by Δscore:

Variant	Effect	Δscore
3:49664419:CTA:C	acceptor_loss	1.0000
3:49664421:A:AG	acceptor_gain	1.0000
3:49664421:AG:A	acceptor_gain	1.0000
3:49664421:AGGT:A	acceptor_gain	1.0000
3:49664422:G:GT	acceptor_gain	1.0000
3:49664422:GG:G	acceptor_gain	1.0000
3:49664422:GGT:G	acceptor_gain	1.0000
3:49664422:GGTG:G	acceptor_gain	1.0000
3:49664550:GGAAG:G	donor_gain	1.0000
3:49664551:G:GT	donor_gain	1.0000
3:49664551:GAAG:G	donor_gain	1.0000
3:49664552:A:T	donor_gain	1.0000
3:49664555:G:GC	donor_loss	1.0000
3:49664555:G:GG	donor_gain	1.0000
3:49664797:A:AG	acceptor_gain	1.0000
3:49664798:G:GG	acceptor_gain	1.0000
3:49664798:GCT:G	acceptor_gain	1.0000
3:49664849:GCATG:G	donor_gain	1.0000
3:49664850:CATGG:C	donor_loss	1.0000
3:49664851:ATGG:A	donor_loss	1.0000
3:49664852:TGGTG:T	donor_loss	1.0000
3:49664854:G:GC	donor_loss	1.0000
3:49664855:T:A	donor_loss	1.0000
3:49664856:G:GT	donor_loss	1.0000
3:49665319:G:GG	donor_gain	1.0000
3:49554824:CAGGT:C	donor_loss	0.9900
3:49554825:AGGT:A	donor_loss	0.9900
3:49554826:GGT:G	donor_loss	0.9900
3:49554827:GTAAG:G	donor_loss	0.9900
3:49554828:T:G	donor_loss	0.9900

AlphaMissense

25180 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:49625258:T:C	C170R	1.000
3:49625260:T:G	C170W	1.000
3:49625318:T:C	C190R	1.000
3:49625320:C:G	C190W	1.000
3:49625342:T:C	C198R	1.000
3:49625351:T:A	C201S	1.000
3:49625351:T:C	C201R	1.000
3:49625352:G:C	C201S	1.000
3:49625357:T:C	F203L	1.000
3:49625359:C:A	F203L	1.000
3:49625359:C:G	F203L	1.000
3:49642279:G:C	W215C	1.000
3:49642279:G:T	W215C	1.000
3:49642283:T:C	C217R	1.000
3:49642285:T:G	C217W	1.000
3:49642292:T:C	C220R	1.000
3:49652855:T:A	I1100N	1.000
3:49655849:T:C	I2098T	1.000
3:49655849:T:G	I2098S	1.000
3:49656812:T:C	L2419P	1.000
3:49660718:T:C	L2958P	1.000
3:49660739:T:C	L2965P	1.000
3:49660765:G:C	A2974P	1.000
3:49660772:T:C	L2976P	1.000
3:49625258:T:A	C170S	0.999
3:49625258:T:G	C170G	0.999
3:49625259:G:A	C170Y	0.999
3:49625259:G:C	C170S	0.999
3:49625267:T:A	C173S	0.999
3:49625267:T:C	C173R	0.999

dbSNP variants (sampled 300 via entrez): RS1000003523 (3:49613669 T>TC), RS1000036682 (3:49670913 C>T), RS1000118009 (3:49644590 G>T), RS1000132681 (3:49606583 G>C), RS1000144687 (3:49562494 G>A), RS1000158241 (3:49590996 C>T), RS1000179879 (3:49585122 A>G), RS1000246020 (3:49606903 G>A,C), RS1000249038 (3:49586491 G>A), RS1000271185 (3:49569964 C>T), RS1000343033 (3:49637676 C>T), RS1000416872 (3:49579647 T>C), RS1000466805 (3:49651103 G>C,T), RS1000481935 (3:49594680 A>C), RS1000511324 (3:49642609 G>A)

Disease associations

OMIM: gene MIM:604020 | disease phenotypes: MIM:157900, MIM:168600

GenCC curated gene-disease

Disease	Classification	Inheritance
epilepsy	Strong	Autosomal dominant

Mondo (5): Mobius syndrome (MONDO:0008006), epilepsy (MONDO:0005027), Parkinson disease (MONDO:0005180), parkinsonian disorder (MONDO:0021095), vascular parkinsonism (MONDO:0956980)

Orphanet (2): Moebius syndrome (Orphanet:570), NON RARE IN EUROPE: Parkinson disease (Orphanet:319705)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

50 associations (top):

Study	Trait	p-value
GCST000042_6	Crohn’s disease	4.000000e-08
GCST000879_45	Crohn’s disease	6.000000e-17
GCST000964_6	Ulcerative colitis	2.000000e-17
GCST001725_77	Inflammatory bowel disease	1.000000e-47
GCST002548_9	Ulcerative colitis	8.000000e-07
GCST002774_7	Cognitive function	5.000000e-06
GCST003854_53	Gut microbiota (functional units)	4.000000e-06
GCST003991_13	Childhood ear infection	2.000000e-08
GCST004131_23	Inflammatory bowel disease	1.000000e-33
GCST004132_17	Crohn’s disease	3.000000e-23
GCST004133_11	Ulcerative colitis	8.000000e-20
GCST004611_24	High light scatter reticulocyte count	5.000000e-50
GCST004628_60	Immature fraction of reticulocytes	1.000000e-20
GCST005013_37	Childhood ear infection	2.000000e-08
GCST005316_111	Intelligence (MTAG)	2.000000e-11
GCST005316_120	Intelligence (MTAG)	6.000000e-13
GCST005316_121	Intelligence (MTAG)	2.000000e-09
GCST005537_15	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	8.000000e-11
GCST005951_49	Body mass index	1.000000e-08
GCST006269_387	General cognitive ability	2.000000e-10
GCST006620_8	Self-rated health	4.000000e-08
GCST006920_7	Regular attendance at a gym or sports club	6.000000e-10
GCST006922_9	Regular attendance at a religious group	3.000000e-08
GCST007044_11	Extremely high intelligence	4.000000e-08
GCST007559_24	Sleep duration (short sleep)	3.000000e-08
GCST007565_153	Morning person	1.000000e-17
GCST007615_16	C-reactive protein levels	4.000000e-10
GCST008357_20	Mood instability	4.000000e-11
GCST009524_247	Household income (MTAG)	1.000000e-11
GCST009524_258	Household income (MTAG)	3.000000e-11

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0007874	gut microbiome measurement
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0007986	reticulocyte count
EFO:0004340	body mass index
EFO:0004778	self rated health
EFO:0009592	social interaction measurement
EFO:0008328	chronotype measurement
EFO:0004458	C-reactive protein measurement
EFO:0008475	mood instability measurement
EFO:0009695	household income
EFO:0004346	neuroimaging measurement
EFO:0004319	smoking cessation
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490
D020331	Mobius Syndrome	C07.465.299.825; C10.292.319.825; C10.292.562.700.375.750; C11.590.436.400.750; C16.131.077.578; C16.614.595
D010300	Parkinson Disease	C10.228.140.079.862.500; C10.228.662.600.400; C10.574.928.750
D020734	Parkinsonian Disorders	C10.228.140.079.862; C10.228.662.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation, affects methylation, decreases expression	4
dicrotophos	increases expression	1
methyleugenol	decreases expression	1
bisphenol A	increases expression	1
benzo(e)pyrene	increases methylation	1
beta-methylcholine	affects expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Decitabine	decreases expression, affects reaction	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Estrogens	affects expression	1
Methapyrilene	increases methylation	1
Quercetin	increases expression	1
Tunicamycin	increases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Genistein	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004637	PHASE4	COMPLETED	Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914	PHASE4	COMPLETED	Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223	PHASE4	UNKNOWN	Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081	PHASE4	UNKNOWN	Study to Improve the Treatment of Epilepsy (SITE)
NCT00137709	PHASE4	UNKNOWN	Hormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076	PHASE4	COMPLETED	A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828	PHASE4	TERMINATED	Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116	PHASE4	COMPLETED	Levetiracetam for Benign Rolandic Epilepsy
NCT00207935	PHASE4	COMPLETED	Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592	PHASE4	COMPLETED	Open Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604	PHASE4	COMPLETED	A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639	PHASE4	COMPLETED	Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676	PHASE4	UNKNOWN	Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947	PHASE4	COMPLETED	Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411	PHASE4	COMPLETED	Study of Valproate in Young Patients Suffering From Epilepsy
NCT00522418	PHASE4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940	PHASE4	COMPLETED	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526	PHASE4	UNKNOWN	Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915	PHASE4	COMPLETED	RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155	PHASE4	COMPLETED	Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195	PHASE4	COMPLETED	RNS® System LTT Study
NCT00610532	PHASE4	TERMINATED	Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357	PHASE4	COMPLETED	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630	PHASE4	COMPLETED	Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968	PHASE4	COMPLETED	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150	PHASE4	COMPLETED	A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958	PHASE4	COMPLETED	ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622	PHASE4	COMPLETED	Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989	PHASE4	COMPLETED	The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884	PHASE4	COMPLETED	The Safety of Intravenous Lacosamide
NCT00869622	PHASE4	COMPLETED	Antiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987	PHASE4	COMPLETED	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081	PHASE4	COMPLETED	A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455	PHASE4	TERMINATED	Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165	PHASE4	COMPLETED	Low and High Dose Zonisamide in Children as Monotherapy
NCT01127256	PHASE4	COMPLETED	Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867	PHASE4	COMPLETED	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954	PHASE4	COMPLETED	Cognitive and Behavioral Effects of Lacosamide
NCT01229735	PHASE4	COMPLETED	Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724	PHASE4	TERMINATED	Lexapro for Major Depression in Patients With Epilepsy