FRRS1L

Summary

FRRS1L (ferric chelate reductase 1 like, HGNC:1362) is a protein-coding gene on chromosome 9q31.3, encoding DOMON domain-containing protein FRRS1L (Q9P0K9). Important modulator of glutamate signaling pathway.

This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37.

Source: NCBI Gene 23732 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic developmental and epileptic encephalopathy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 444 total — 28 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 50
• MANE Select transcript: NM_014334

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1362
Approved symbol	FRRS1L
Name	ferric chelate reductase 1 like
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Aliases	CG-6
Ensembl gene	ENSG00000260230
Ensembl biotype	protein_coding
OMIM	604574
Entrez	23732

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding

ENST00000561981, ENST00000642157, ENST00000642299, ENST00000644736, ENST00000644747, ENST00000645180

RefSeq mRNA: 1 — MANE Select: NM_014334 NM_014334

CCDS: CCDS35098

Canonical transcript exons

ENST00000561981 — 5 exons

Exon	Start	End
ENSE00000718927	109141343	109141589
ENSE00000926800	109147051	109147189
ENSE00000926801	109149636	109149720
ENSE00001463888	109166901	109167249
ENSE00002584457	109130293	109137627

Expression profiles

Bgee: expression breadth ubiquitous, 189 present calls, max score 98.74.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5899 / max 126.2940, expressed in 300 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101878	2.5497	300
101879	0.0402	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.74	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.92	gold quality
orbitofrontal cortex	UBERON:0004167	97.32	gold quality
frontal pole	UBERON:0002795	97.23	gold quality
postcentral gyrus	UBERON:0002581	96.65	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.62	gold quality
superior frontal gyrus	UBERON:0002661	96.58	gold quality
paraflocculus	UBERON:0005351	96.36	gold quality
parietal lobe	UBERON:0001872	95.88	gold quality
entorhinal cortex	UBERON:0002728	95.84	gold quality
endothelial cell	CL:0000115	95.51	gold quality
Brodmann (1909) area 46	UBERON:0006483	95.40	gold quality
cerebellar vermis	UBERON:0004720	95.16	gold quality
CA1 field of hippocampus	UBERON:0003881	94.95	gold quality
middle frontal gyrus	UBERON:0002702	94.76	gold quality
lateral globus pallidus	UBERON:0002476	94.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.86	gold quality
primary visual cortex	UBERON:0002436	93.60	gold quality
occipital lobe	UBERON:0002021	93.12	gold quality
substantia nigra pars compacta	UBERON:0001965	92.42	gold quality
cortical plate	UBERON:0005343	91.50	gold quality
prefrontal cortex	UBERON:0000451	91.40	gold quality
frontal cortex	UBERON:0001870	91.25	gold quality
substantia nigra pars reticulata	UBERON:0001966	90.88	gold quality
pons	UBERON:0000988	90.69	gold quality
cerebral cortex	UBERON:0000956	90.24	gold quality
neocortex	UBERON:0001950	90.23	gold quality
cerebellum	UBERON:0002037	90.12	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.83	gold quality
superior vestibular nucleus	UBERON:0007227	89.76	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	25.61
E-ANND-3	yes	7.45
E-GEOD-137537	yes	6.25
E-GEOD-86618	no	55.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting FRRS1L, 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-1277-5P	100.00	73.95	5056
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-1243	97.07	65.44	719

Literature-anchored findings (GeneRIF, showing 4)

• Loss-of-Function Mutations in FRRS1L gene is associated with Epileptic-Dyskinetic Encephalopathy. (PMID:27236917)
• Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. (PMID:32928027)
• Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L. (PMID:35815844)
• Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. (PMID:36330921)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	frrs1l	ENSDARG00000103940
mus_musculus	Frrs1l	ENSMUSG00000045589
rattus_norvegicus	Frrs1l	ENSRNOG00000043103
drosophila_melanogaster	CG8399	FBGN0034067
drosophila_melanogaster	CG14515	FBGN0039648
drosophila_melanogaster	l(2)34Fc	FBGN0261534
caenorhabditis_elegans		WBGENE00007339
caenorhabditis_elegans		WBGENE00007545
caenorhabditis_elegans		WBGENE00013292
caenorhabditis_elegans		WBGENE00019746
caenorhabditis_elegans		WBGENE00077490

Paralogs (2): FRRS1 (ENSG00000156869), REELD1 (ENSG00000250673)

Protein

Protein identifiers

DOMON domain-containing protein FRRS1L — Q9P0K9 (reviewed: Q9P0K9)

Alternative names: Brain protein CG-6, Ferric-chelate reductase 1-like protein

All UniProt accessions (4): A0A2R8Y4E4, A0A2R8Y5Y6, Q9P0K9, A0A2R8YDG8

UniProt curated annotations — full annotation on UniProt →

Function. Important modulator of glutamate signaling pathway.

Subunit / interactions. Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing.

Subcellular location. Cell membrane. Synapse.

Tissue specificity. Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary.

Disease relevance. Developmental and epileptic encephalopathy 37 (DEE37) [MIM:616981] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE37 is an autosomal recessive, severe form manifesting in the first years of life. Affected individuals show hyperkinetic movement disorder with choreoathetosis, spasticity, rigidity, intellectual disability, absent speech, and impaired volitional movements. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_055149* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005018	DOMON_domain	Domain
IPR042789	FRRS1L	Family

Pfam: PF03351

UniProt features (7 total): signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0K9-F1	80.60	0.63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_POSTSYNAPTIC_MEMBRANE_ORGANIZATION, GOBP_SYNAPTIC_SIGNALING, CAIRO_HEPATOBLASTOMA_UP, GOBP_MEMBRANE_ORGANIZATION, GOBP_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_RECEPTOR_CLUSTERING, GOCC_POSTSYNAPSE, GOCC_SYNAPSE

GO Biological Process (4): regulation of synaptic transmission, glutamatergic (GO:0051966), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072), regulation of glutamate receptor signaling pathway (GO:1900449), regulation of AMPA glutamate receptor clustering (GO:1904717)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), dynein intermediate chain binding (GO:0045505)

GO Cellular Component (5): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), postsynapse (GO:0098794), membrane (GO:0016020), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
synaptic transmission, glutamatergic	1
modulation of chemical synaptic transmission	1
regulation of biological quality	1
glutamate receptor signaling pathway	1
regulation of signal transduction	1
AMPA glutamate receptor clustering	1
regulation of glutamate receptor clustering	1
binding	1
protein binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

1709 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRRS1L	ABITRAM	Q9NX38	882
FRRS1L	CPT1C	Q8TCG5	779
FRRS1L	ABHD6	Q9BV23	570
FRRS1L	CACNG8	Q8WXS5	562
FRRS1L	C1orf159	Q96HA4	494
FRRS1L	GSG1L	Q6UXU4	490
FRRS1L	C8B	P07358	478
FRRS1L	CTXN1	P60606	474
FRRS1L	CNIH1	O95406	469
FRRS1L	DNHD1	Q96M86	461
FRRS1L	CNIH2	Q6PI25	460
FRRS1L	PTCD2	Q8WV60	460
FRRS1L	SH2D5	Q6ZV89	457
FRRS1L	WDR20	Q8TBZ3	447
FRRS1L	ZNHIT2	Q9UHR6	446
FRRS1L	C8A	P07357	446

IntAct

3 interactions, top by confidence:

A	B	Type	Score
TBRG4	PNPT1	psi-mi:“MI:0914”(association)	0.640
TBRG4	RAP1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): FRRS1L (Affinity Capture-MS), FRRS1L (Affinity Capture-MS)

ESM2 similar proteins: A2AFS3, B1AXV0, D0PRN2, D3ZE85, D4ABL6, E9PV86, M0R7X9, M0RAS4, O19116, O42224, O54951, O60243, O70141, P0DI97, P58400, Q00961, Q01098, Q13507, Q13635, Q14957, Q28142, Q3ZBS2, Q4R766, Q5E9M6, Q5RF67, Q61200, Q63366, Q63373, Q6DN14, Q6NW40, Q76LW2, Q7TNR6, Q7Z5A7, Q8C4U3, Q8N2K0, Q8N474, Q8NBT3, Q8WXS5, Q90693, Q91WE9

Diamond homologs: A0A1B0GV85, A2VE04, A4QP81, B1AXV0, D3ZE85, P0C963, P35446, P35447, Q5MGQ0, Q6INU7, Q6ZNA5, Q8K385, Q8VCC9, Q9GLX9, Q9HCB6, Q9P0K9, Q9V3Y3, Q9W770, Q008X1, Q0Q028, Q765V4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	28
Likely pathogenic	7
Uncertain significance	225
Likely benign	145
Benign	21

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1070692	NM_014334.4(FRRS1L):c.121G>T (p.Gly41Ter)	Pathogenic
1073247	NC_000009.12:g.109167267dup	Pathogenic
1076371	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTNNNNNNNNNNGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	Pathogenic
1426886	NM_014334.4(FRRS1L):c.68_69del (p.Pro23fs)	Pathogenic
1427697	NC_000009.12:g.109167276G>A	Pathogenic
1452447	NM_014334.4(FRRS1L):c.564_576del (p.Asn188fs)	Pathogenic
1458310	NM_014334.4(FRRS1L):c.62del (p.Thr21fs)	Pathogenic
1459172	NC_000009.11:g.(?111903603)(111903889_?)del	Pathogenic
1997044	NC_000009.12:g.109167267del	Pathogenic
2100471	NM_014334.4(FRRS1L):c.-35_-16del	Pathogenic
218151	NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)	Pathogenic
218152	NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter)	Pathogenic
218154	NM_014334.4(FRRS1L):c.283dup (p.Ile95fs)	Pathogenic
2698820	NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePhePhePhePhePhePhePheXaaXaaThrSerTer)	Pathogenic
2704376	NM_014334.4(FRRS1L):c.542G>A (p.Trp181Ter)	Pathogenic
2709537	NM_014334.4(FRRS1L):c.189C>G (p.Tyr63Ter)	Pathogenic
3245267	NC_000009.11:g.(?111899735)(111929571_?)del	Pathogenic
3622710	NM_014334.4(FRRS1L):c.-23G>A	Pathogenic
3727968	NM_014334.4(FRRS1L):c.321del (p.Phe107fs)	Pathogenic
4720998	NM_014334.4(FRRS1L):c.-99del	Pathogenic
4721448	NM_014334.4(FRRS1L):c.327del (p.Arg108_Tyr109insTer)	Pathogenic
4731360	NM_014334.4(FRRS1L):c.543G>A (p.Trp181Ter)	Pathogenic
476302	NM_014334.4(FRRS1L):c.145del (p.Asp49fs)	Pathogenic
569279	NM_014334.4(FRRS1L):c.300_301del (p.Cys100fs)	Pathogenic
659759	NM_014334.4(FRRS1L):c.517C>T (p.Gln173Ter)	Pathogenic
831493	NC_000009.12:g.(?109147031)(109147209_?)del	Pathogenic
952733	NM_014334.4(FRRS1L):c.568del (p.Ala190fs)	Pathogenic
984706	NM_014334.4(FRRS1L):c.431del (p.Val144fs)	Pathogenic
1012838	NM_014334.4(FRRS1L):c.709+2T>G	Likely pathogenic
2440332	NM_014334.4(FRRS1L):c.69del (p.Ala24fs)	Likely pathogenic

SpliceAI

1024 predictions. Top by Δscore:

Variant	Effect	Δscore
9:109137418:T:TA	donor_gain	1.0000
9:109137419:C:A	donor_gain	1.0000
9:109147044:ATCTT:A	donor_loss	1.0000
9:109147045:TCTTA:T	donor_loss	1.0000
9:109147046:CTTA:C	donor_loss	1.0000
9:109147047:TTAC:T	donor_loss	1.0000
9:109147048:TA:T	donor_loss	1.0000
9:109147049:A:AT	donor_loss	1.0000
9:109166899:AC:A	donor_gain	1.0000
9:109166899:ACCCT:A	donor_gain	1.0000
9:109166900:CC:C	donor_gain	1.0000
9:109166900:CCCTC:C	donor_gain	1.0000
9:109166903:T:A	donor_gain	1.0000
9:109141380:A:AC	donor_gain	0.9900
9:109141381:C:CC	donor_gain	0.9900
9:109141586:CACC:C	acceptor_gain	0.9900
9:109141588:CC:C	acceptor_gain	0.9900
9:109141589:CC:C	acceptor_gain	0.9900
9:109147049:A:AC	donor_gain	0.9900
9:109147050:C:CC	donor_gain	0.9900
9:109147078:TGC:T	donor_gain	0.9900
9:109147185:CATAT:C	acceptor_gain	0.9900
9:109147187:TAT:T	acceptor_gain	0.9900
9:109147187:TATC:T	acceptor_loss	0.9900
9:109147189:TCT:T	acceptor_loss	0.9900
9:109147190:C:CC	acceptor_gain	0.9900
9:109147190:CTAGA:C	acceptor_loss	0.9900
9:109147191:T:A	acceptor_loss	0.9900
9:109149601:AG:A	donor_gain	0.9900
9:109149645:C:A	donor_gain	0.9900

AlphaMissense

2201 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:109137613:G:C	H293D	1.000
9:109141357:C:A	G283V	1.000
9:109141357:C:T	G283D	1.000
9:109141358:C:A	G283C	1.000
9:109141358:C:G	G283R	1.000
9:109141369:A:G	L279P	1.000
9:109141429:C:G	R259P	1.000
9:109141430:G:T	R259S	1.000
9:109141434:A:C	F257L	1.000
9:109141434:A:T	F257L	1.000
9:109141435:A:G	F257S	1.000
9:109141436:A:G	F257L	1.000
9:109141440:G:C	C255W	1.000
9:109141441:C:A	C255F	1.000
9:109141441:C:G	C255S	1.000
9:109141441:C:T	C255Y	1.000
9:109141442:A:G	C255R	1.000
9:109141442:A:T	C255S	1.000
9:109141447:A:T	V253D	1.000
9:109141450:C:G	R252P	1.000
9:109141509:C:A	W232C	1.000
9:109141509:C:G	W232C	1.000
9:109141521:A:C	N228K	1.000
9:109141521:A:T	N228K	1.000
9:109141566:G:C	C213W	1.000
9:109141567:C:A	C213F	1.000
9:109141567:C:G	C213S	1.000
9:109141567:C:T	C213Y	1.000
9:109141568:A:G	C213R	1.000
9:109141568:A:T	C213S	1.000

dbSNP variants (sampled 300 via entrez): RS1000056317 (9:109158656 A>G), RS1000176455 (9:109140488 G>A), RS1000241107 (9:109149095 G>A,C), RS1000285612 (9:109152383 C>T), RS1000331828 (9:109167650 C>G,T), RS1000366227 (9:109164747 A>C), RS1000376939 (9:109146151 C>T), RS1000378565 (9:109136764 C>T), RS1000409507 (9:109146399 G>C), RS1000466164 (9:109160280 C>T), RS1000713492 (9:109147448 A>G), RS1000746144 (9:109147798 G>T), RS1000779953 (9:109130796 C>T), RS1000849122 (9:109143178 G>A), RS1000867606 (9:109159987 A>G)

Disease associations

OMIM: gene MIM:604574 | disease phenotypes: MIM:616981

GenCC curated gene-disease

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	Autosomal recessive
developmental and epileptic encephalopathy, 37	Strong	Autosomal recessive
autosomal recessive non-syndromic intellectual disability	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
genetic developmental and epileptic encephalopathy	Definitive	AR

Mondo (5): developmental and epileptic encephalopathy, 37 (MONDO:0014859), choreatic disease (MONDO:0001595), epilepsy (MONDO:0005027), genetic developmental and epileptic encephalopathy (MONDO:0100062), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)

Orphanet (1): Benign hereditary chorea (Orphanet:1429)

HPO phenotypes

50 total (30 of 50 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000639	Nystagmus
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001272	Cerebellar atrophy
HP:0001288	Gait disturbance
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001344	Absent speech
HP:0001345	Psychotic mentation
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002069	Bilateral tonic-clonic seizure
HP:0002072	Chorea
HP:0002266	Focal clonic seizure
HP:0002312	Clumsiness
HP:0002333	Motor deterioration
HP:0002349	Focal aware seizure
HP:0002375	Hypokinesia
HP:0002376	Developmental regression
HP:0002381	Aphasia
HP:0002384	Focal impaired awareness seizure
HP:0002396	Cogwheel rigidity
HP:0002487	Hyperkinetic movements

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004138_11	Early-onset Parkinson’s disease	2.000000e-31
GCST004904_82	Body mass index	2.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002819	Chorea	C10.228.662.262.249; C10.597.350.250; C23.888.592.350.250
D004827	Epilepsy	C10.228.140.490

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
entinostat	decreases expression, affects cotreatment	2
Panobinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
MT19c compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

312 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