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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for GRIK2 |
 Gene summary |
| Gene information | Gene symbol | GRIK2 | Gene ID | 2898 |
| Gene name | glutamate ionotropic receptor kainate type subunit 2 | |
| Synonyms | EAA4|GLR6|GLUK6|GLUR6|GluK2|MRT6 | |
| Cytomap | 6q16.3 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor ionotropic, kainate 2bA487F5.1excitatory amino acid receptor 4gluR-6glutamate receptor 6glutamate receptor form Aglutamate receptor form Bglutamate receptor form Cglutamate receptor form Dglutamate receptor form E | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GRIK2 | GO:0050804 | modulation of chemical synaptic transmission | 15537878 |
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Gene structures and expression levels for GRIK2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000164418
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | DOWN | ENST00000487395.1 | GRIK2-211:retained_intron:GRIK2 | 4.493499e+01 | -8.492719e-01 | 2.228381e-05 | 9.051138e-04 |
| PG | DOWN | ENST00000487161.1 | GRIK2-210:retained_intron:GRIK2 | 3.026984e+01 | -8.110552e-01 | 1.160321e-04 | 3.064336e-03 |
| PG | DOWN | ENST00000421544.6 | GRIK2-207:protein_coding:GRIK2 | 1.916110e+02 | -9.454979e-01 | 2.466608e-03 | 2.771793e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GRIK2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_106302 | chr6 | 102055330:102055580:102065797:102065928:102068347:102068975 | 102065797:102065928 |
| exon_skip_122659 | chr6 | 101621949:101622116:101626380:101626637:101676623:101676804 | 101626380:101626637 |
| exon_skip_154794 | chr6 | 102055330:102055580:102065797:102065928:102068347:102070083 | 102065797:102065928 |
| exon_skip_201649 | chr6 | 101676769:101676804:101682553:101682606:101686180:101686353 | 101682553:101682606 |
| exon_skip_224944 | chr6 | 102055330:102055580:102063962:102064048:102068347:102068975 | 102063962:102064048 |
| exon_skip_236019 | chr6 | 102055330:102055580:102063962:102064048:102068347:102070083 | 102063962:102064048 |
| exon_skip_272009 | chr6 | 101928415:101928632:102035341:102035566:102055330:102055580 | 102035341:102035566 |
| exon_skip_274231 | chr6 | 102055524:102055580:102065797:102065928:102068347:102070083 | 102065797:102065928 |
| exon_skip_279174 | chr6 | 102055524:102055580:102063962:102064048:102068347:102070083 | 102063962:102064048 |
| exon_skip_30304 | chr6 | 102035341:102035566:102055330:102055580:102068347:102070083 | 102055330:102055580 |
| exon_skip_68415 | chr6 | 101682553:101682606:101686180:101686353:101799648:101799791 | 101686180:101686353 |
| exon_skip_72284 | chr6 | 101676769:101676804:101682553:101682606:101686180:101686330 | 101682553:101682606 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for GRIK2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000421544 | 102035341 | 102035566 | Frame-shift |
| ENST00000421544 | 101682553 | 101682606 | In-frame |
| ENST00000421544 | 101686180 | 101686353 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000421544 | 102055330 | 102055580 | Frame-shift |
| ENST00000421544 | 101626380 | 101626637 | In-frame |
| ENST00000421544 | 101682553 | 101682606 | In-frame |
| ENST00000421544 | 101686180 | 101686353 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000421544 | 102035341 | 102035566 | Frame-shift |
| ENST00000421544 | 101626380 | 101626637 | In-frame |
| ENST00000421544 | 101682553 | 101682606 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIK2 |
p-ENSG00000164418_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000421544 | 4806 | 908 | 101682553 | 101682606 | 1215 | 1267 | 241 | 259 |
| ENST00000421544 | 4806 | 908 | 101686180 | 101686353 | 1269 | 1441 | 259 | 317 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000421544 | 4806 | 908 | 101626380 | 101626637 | 775 | 1031 | 95 | 180 |
| ENST00000421544 | 4806 | 908 | 101682553 | 101682606 | 1215 | 1267 | 241 | 259 |
| ENST00000421544 | 4806 | 908 | 101686180 | 101686353 | 1269 | 1441 | 259 | 317 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000421544 | 4806 | 908 | 101626380 | 101626637 | 775 | 1031 | 95 | 180 |
| ENST00000421544 | 4806 | 908 | 101682553 | 101682606 | 1215 | 1267 | 241 | 259 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13002 | 241 | 259 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 241 | 259 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 241 | 259 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 259 | 317 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 259 | 317 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 259 | 317 | 275 | 275 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 259 | 317 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13002 | 95 | 180 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 95 | 180 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 95 | 180 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 241 | 259 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 241 | 259 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 241 | 259 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 259 | 317 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 259 | 317 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 259 | 317 | 275 | 275 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 259 | 317 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13002 | 95 | 180 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 95 | 180 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 95 | 180 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13002 | 241 | 259 | 32 | 908 | Chain | ID=PRO_0000011544;Note=Glutamate receptor ionotropic%2C kainate 2 |
| Q13002 | 241 | 259 | 96 | 347 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13002 | 241 | 259 | 32 | 561 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GRIK2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for GRIK2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for GRIK2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_280992 | -3.799953e-01 | 4.608588e-02 | chr6 | + | 101621949 | 101622116 | 101623337 | 101623384 | 101626380 | 101626637 |
| CDR | MSBB | IFG | exon_skip_280992 | -4.370346e-01 | 2.004731e-02 | chr6 | + | 101621949 | 101622116 | 101623337 | 101623384 | 101626380 | 101626637 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIK2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for GRIK2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GRIK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q13002 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | Q13002 |
| Q13002 | approved|illicit | DB00241 | Butalbital | small molecule | Q13002 |
| Q13002 | approved|illicit | DB00306 | Talbutal | small molecule | Q13002 |
| Q13002 | approved|investigational|vet_approved | DB00312 | Pentobarbital | small molecule | Q13002 |
| Q13002 | approved|vet_approved | DB00418 | Secobarbital | small molecule | Q13002 |
| Q13002 | approved|vet_approved | DB00599 | Thiopental | small molecule | Q13002 |
| Q13002 | approved|vet_approved | DB00794 | Primidone | small molecule | Q13002 |
| Q13002 | approved | DB00849 | Methylphenobarbital | small molecule | Q13002 |
| Q13002 | approved|investigational | DB01174 | Phenobarbital | small molecule | Q13002 |
| Q13002 | approved|illicit | DB01351 | Amobarbital | small molecule | Q13002 |
| Q13002 | approved|illicit | DB01353 | Butobarbital | small molecule | Q13002 |
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RelatedDiseases for GRIK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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