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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:RCAN1-GRIK1 (FusionGDB2 ID:72664)

Fusion Gene Summary for RCAN1-GRIK1

check button Fusion gene summary
Fusion gene informationFusion gene name: RCAN1-GRIK1
Fusion gene ID: 72664
HgeneTgene
Gene symbol

RCAN1

GRIK1

Gene ID

1827

2897

Gene nameregulator of calcineurin 1glutamate ionotropic receptor kainate type subunit 1
SynonymsADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1EAA3|EEA3|GLR5|GLUR5|GluK1|gluR-5
Cytomap

21q22.12

21q21.3

Type of geneprotein-codingprotein-coding
Descriptioncalcipressin-1Down syndrome candidate region 1Down syndrome critical region gene 1calcium and oxidant-inducible mRNAmodulatory calcineurin-interacting protein 1myocyte-enriched calcineurin-interacting protein 1near DSCR proline-rich proteinglutamate receptor ionotropic, kainate 1excitatory amino acid receptor 3glutamate receptor 5
Modification date2020032020200320
UniProtAcc.

P39086

Ensembl transtripts involved in fusion geneENST00000487990, ENST00000399272, 
ENST00000489903, ENST00000313806, 
ENST00000443408, ENST00000482533, 
ENST00000481448, ENST00000381132, 
ENST00000381135, ENST00000492600, 
ENST00000327783, ENST00000389125, 
ENST00000399913, ENST00000399914, 
ENST00000535441, ENST00000389124, 
ENST00000399907, ENST00000399909, 
ENST00000309434, ENST00000472429, 
Fusion gene scores* DoF score5 X 6 X 5=15012 X 9 X 6=648
# samples 912
** MAII scorelog2(9/150*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RCAN1 [Title/Abstract] AND GRIK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRCAN1(35987059)-GRIK1(31066382), # samples:1
Anticipated loss of major functional domain due to fusion event.RCAN1-GRIK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across RCAN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GRIK1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-55-7913-01BRCAN1chr21

35987059

-GRIK1chr21

31066382

-


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Fusion Gene ORF analysis for RCAN1-GRIK1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000487990ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000487990ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000487990ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000399272ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000399272ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000489903ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000489903ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
Frame-shiftENST00000313806ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
5CDS-5UTRENST00000313806ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000443408ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000443408ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000482533ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000482533ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000481448ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000481448ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381132ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000381132ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000381135ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000381135ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000327783RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000389125RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000399913RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000399914RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000535441RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000389124RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000399907RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000399909RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-3CDSENST00000492600ENST00000309434RCAN1chr21

35987059

-GRIK1chr21

31066382

-
intron-5UTRENST00000492600ENST00000472429RCAN1chr21

35987059

-GRIK1chr21

31066382

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for RCAN1-GRIK1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RCAN1-GRIK1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.GRIK1

P39086

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for RCAN1-GRIK1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for RCAN1-GRIK1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for RCAN1-GRIK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGRIK1P39086DB00237ButabarbitalAntagonistSmall moleculeApproved|Illicit
TgeneGRIK1P39086DB00237ButabarbitalAntagonistSmall moleculeApproved|Illicit
TgeneGRIK1P39086DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
TgeneGRIK1P39086DB00142Glutamic acidSmall moleculeApproved|Nutraceutical

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Related Diseases for RCAN1-GRIK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRCAN1C0003873Rheumatoid Arthritis1CTD_human
HgeneRCAN1C0013080Down Syndrome1CTD_human
HgeneRCAN1C0018798Congenital Heart Defects1CTD_human
HgeneRCAN1C0020179Huntington Disease1CTD_human
HgeneRCAN1C0376634Craniofacial Abnormalities1CTD_human
HgeneRCAN1C0393574Huntington Disease, Late Onset1CTD_human
HgeneRCAN1C0432416Down Syndrome, Partial Trisomy 211CTD_human
HgeneRCAN1C0432417Trisomy 21, Meiotic Nondisjunction1CTD_human
HgeneRCAN1C0751081Trisomy 21, Mitotic Nondisjunction1CTD_human
HgeneRCAN1C0751207Akinetic-Rigid Variant of Huntington Disease1CTD_human
HgeneRCAN1C0751208Juvenile Huntington Disease1CTD_human
HgeneRCAN1C2239176Liver carcinoma1CTD_human
TgeneGRIK1C0036341Schizophrenia2PSYGENET
TgeneGRIK1C0687132heavy drinking2PSYGENET
TgeneGRIK1C0001969Alcoholic Intoxication1PSYGENET
TgeneGRIK1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneGRIK1C0005586Bipolar Disorder1PSYGENET
TgeneGRIK1C0022333Jacksonian Seizure1CTD_human
TgeneGRIK1C0036572Seizures1CTD_human
TgeneGRIK1C0149958Complex partial seizures1CTD_human
TgeneGRIK1C0234533Generalized seizures1CTD_human
TgeneGRIK1C0234535Clonic Seizures1CTD_human
TgeneGRIK1C0270824Visual seizure1CTD_human
TgeneGRIK1C0270844Tonic Seizures1CTD_human
TgeneGRIK1C0270846Epileptic drop attack1CTD_human
TgeneGRIK1C0422850Seizures, Somatosensory1CTD_human
TgeneGRIK1C0422852Seizures, Auditory1CTD_human
TgeneGRIK1C0422853Olfactory seizure1CTD_human
TgeneGRIK1C0422854Gustatory seizure1CTD_human
TgeneGRIK1C0422855Vertiginous seizure1CTD_human
TgeneGRIK1C0494475Tonic - clonic seizures1CTD_human
TgeneGRIK1C0573196Overdose of cocaine1PSYGENET
TgeneGRIK1C0751056Non-epileptic convulsion1CTD_human
TgeneGRIK1C0751110Single Seizure1CTD_human
TgeneGRIK1C0751123Atonic Absence Seizures1CTD_human
TgeneGRIK1C0751494Convulsive Seizures1CTD_human
TgeneGRIK1C0751495Seizures, Focal1CTD_human
TgeneGRIK1C0751496Seizures, Sensory1CTD_human
TgeneGRIK1C3495874Nonepileptic Seizures1CTD_human
TgeneGRIK1C3496069cocaine use1PSYGENET
TgeneGRIK1C4048158Convulsions1CTD_human
TgeneGRIK1C4316903Absence Seizures1CTD_human
TgeneGRIK1C4317109Epileptic Seizures1CTD_human
TgeneGRIK1C4317123Myoclonic Seizures1CTD_human
TgeneGRIK1C4505436Generalized Absence Seizures1CTD_human