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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | Q13002 | |
| Context | PubMed: GRIK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for GRIK2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for GRIK2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GRIK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453497 | 6 | 102124643:102124679:102130427:102130481:102134054:102134228 | 102130427:102130481 | ENSG00000164418.15 | ENST00000318991.6,ENST00000369134.4,ENST00000358361.3,ENST00000413795.1,ENST00000421544.1,ENST00000369137.3,ENST00000369138.1 |
| exon_skip_453499 | 6 | 102130427:102130481:102134054:102134228:102247522:102247666 | 102134054:102134228 | ENSG00000164418.15 | ENST00000318991.6,ENST00000369134.4,ENST00000413795.1,ENST00000421544.1,ENST00000369137.3,ENST00000369138.1 |
| exon_skip_453502 | 6 | 102337514:102337738:102372475:102372594:102376289:102376507 | 102372475:102372594 | ENSG00000164418.15 | ENST00000318991.6,ENST00000369134.4,ENST00000413795.1,ENST00000421544.1,ENST00000369138.1 |
| exon_skip_453505 | 6 | 102503204:102503455:102511836:102511923:102516221:102516386 | 102511836:102511923 | ENSG00000164418.15 | ENST00000413795.1 |
| exon_skip_453506 | 6 | 102503204:102503455:102513671:102513803:102516221:102516386 | 102513671:102513803 | ENSG00000164418.15 | ENST00000369138.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRIK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_453497 | 6 | 102124643:102124679:102130427:102130481:102134054:102134228 | 102130427:102130481 | ENSG00000164418.15 | ENST00000421544.1,ENST00000413795.1,ENST00000369138.1,ENST00000358361.3,ENST00000369137.3,ENST00000318991.6,ENST00000369134.4 |
| exon_skip_453499 | 6 | 102130427:102130481:102134054:102134228:102247522:102247666 | 102134054:102134228 | ENSG00000164418.15 | ENST00000421544.1,ENST00000413795.1,ENST00000369138.1,ENST00000369137.3,ENST00000318991.6,ENST00000369134.4 |
| exon_skip_453502 | 6 | 102337514:102337738:102372475:102372594:102376289:102376507 | 102372475:102372594 | ENSG00000164418.15 | ENST00000421544.1,ENST00000413795.1,ENST00000369138.1,ENST00000318991.6,ENST00000369134.4 |
| exon_skip_453505 | 6 | 102503204:102503455:102511836:102511923:102516221:102516386 | 102511836:102511923 | ENSG00000164418.15 | ENST00000413795.1 |
| exon_skip_453506 | 6 | 102503204:102503455:102513671:102513803:102516221:102516386 | 102513671:102513803 | ENSG00000164418.15 | ENST00000369138.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000421544 | 102372475 | 102372594 | Frame-shift |
| ENST00000421544 | 102130427 | 102130481 | In-frame |
| ENST00000421544 | 102134054 | 102134228 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000421544 | 102372475 | 102372594 | Frame-shift |
| ENST00000421544 | 102130427 | 102130481 | In-frame |
| ENST00000421544 | 102134054 | 102134228 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIK2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 102130427 | 102130481 | 1214 | 1267 | 241 | 259 |
| ENST00000421544 | 4806 | 908 | 102134054 | 102134228 | 1268 | 1441 | 259 | 317 |
| Loci of skipped exons in GTEx 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 | 102130427 | 102130481 | 1214 | 1267 | 241 | 259 |
| ENST00000421544 | 4806 | 908 | 102134054 | 102134228 | 1268 | 1441 | 259 | 317 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for GRIK2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-2Y-A9HB-01 | exon_skip_453499 | 102134055 | 102134228 | 102134116 | 102134116 | Frame_Shift_Del | G | - | p.R280fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_453502 | 102372476 | 102372594 | 102372515 | 102372515 | Frame_Shift_Del | C | - | p.N596fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_453502 | 102372476 | 102372594 | 102372554 | 102372554 | Frame_Shift_Del | A | - | p.L609fs |
| KIRP | TCGA-MH-A561-01 | exon_skip_453506 | 102513672 | 102513803 | 102513771 | 102513771 | Frame_Shift_Del | T | - | p.S887fs |
| SKCM | TCGA-GN-A9SD-06 | exon_skip_453502 | 102372476 | 102372594 | 102372576 | 102372576 | Nonsense_Mutation | G | T | p.G617* |
| STAD | TCGA-HU-A4H8-01 | exon_skip_453499 | 102134055 | 102134228 | 102134229 | 102134229 | Splice_Site | G | A | . |
| STAD | TCGA-HU-A4H8-01 | exon_skip_453499 | 102134055 | 102134228 | 102134229 | 102134229 | Splice_Site | G | A | p.T317_splice |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_453502 | 102372476 | 102372594 | 102372596 | 102372596 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH524_LUNG | 102130428 | 102130481 | 102130439 | 102130439 | Missense_Mutation | G | C | p.M245I |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102134055 | 102134228 | 102134070 | 102134070 | Missense_Mutation | G | A | p.D265N |
| LU139_LUNG | 102134055 | 102134228 | 102134089 | 102134089 | Missense_Mutation | A | T | p.Y271F |
| MM383_SKIN | 102134055 | 102134228 | 102134218 | 102134218 | Missense_Mutation | G | A | p.G314E |
| NCIH2126_LUNG | 102372476 | 102372594 | 102372493 | 102372493 | Missense_Mutation | G | C | p.W589S |
| NCIH2073_LUNG | 102130428 | 102130481 | 102130428 | 102130428 | Splice_Site | G | T | p.A242S |
| PC14_LUNG | 102134055 | 102134228 | 102134227 | 102134227 | Splice_Site | C | T | p.T317M |
| HEC1A_ENDOMETRIUM | 102134055 | 102134228 | 102134227 | 102134227 | Splice_Site | C | T | p.T317M |
| HEC1_ENDOMETRIUM | 102134055 | 102134228 | 102134227 | 102134227 | Splice_Site | C | T | p.T317M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIK2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIK2 |
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RelatedDrugs for GRIK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q13002 | DB00849 | Methylphenobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved | |
| Q13002 | DB00241 | Butalbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|illicit | |
| Q13002 | DB00306 | Talbutal | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|illicit | |
| Q13002 | DB01351 | Amobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|illicit | |
| Q13002 | DB01353 | Butobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|illicit | |
| Q13002 | DB01174 | Phenobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|investigational | |
| Q13002 | DB00312 | Pentobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|investigational|vet_approved | |
| Q13002 | DB00142 | Glutamic Acid | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|nutraceutical | |
| Q13002 | DB00418 | Secobarbital | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|vet_approved | |
| Q13002 | DB00599 | Thiopental | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|vet_approved | |
| Q13002 | DB00794 | Primidone | Glutamate receptor ionotropic, kainate 2 | small molecule | approved|vet_approved |
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RelatedDiseases for GRIK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GRIK2 | C0005586 | Bipolar Disorder | 3 | CTD_human;PSYGENET |
| GRIK2 | C0004352 | Autistic Disorder | 2 | CTD_human |
| GRIK2 | C0033953 | Psychosexual Disorders | 1 | CTD_human |
| GRIK2 | C0036341 | Schizophrenia | 1 | CTD_human |
| GRIK2 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| GRIK2 | C0525045 | Mood Disorders | 1 | PSYGENET |
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