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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 GRIA2 |
 Gene summary |
| Gene information | Gene symbol | GRIA2 | Gene ID | 2891 |
| Gene name | glutamate ionotropic receptor AMPA type subunit 2 | |
| Synonyms | GLUR2|GLURB|GluA2|GluR-K2|HBGR2 | |
| Cytomap | 4q32.1 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor 2AMPA-selective glutamate receptor 2gluR-2gluR-Bglutamate receptor B flip isoformglutamate receptor, ionotropic, AMPA 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P42262 | |
| Context | PubMed: GRIA2 [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 |
| GRIA2 | GO:0035235 | ionotropic glutamate receptor signaling pathway | 20614889 |
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Exon skipping events across known transcript of Ensembl for GRIA2 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 GRIA2 |
| 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 GRIA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_426824 | 4 | 158141054:158141296:158142059:158142282:158142818:158142875 | 158142059:158142282 | ENSG00000120251.14 | ENST00000512774.1 |
| exon_skip_426826 | 4 | 158141842:158141877:158142059:158142282:158142818:158142875 | 158142059:158142282 | ENSG00000120251.14 | ENST00000509417.1 |
| exon_skip_426829 | 4 | 158233830:158234027:158238809:158238863:158242589:158242751 | 158238809:158238863 | ENSG00000120251.14 | ENST00000449365.1,ENST00000471736.1,ENST00000264426.9,ENST00000393815.2,ENST00000507898.1,ENST00000296526.7,ENST00000323661.6 |
| exon_skip_426841 | 4 | 158256822:158257029:158257528:158257899:158262415:158262614 | 158257528:158257899 | ENSG00000120251.14 | ENST00000449365.1,ENST00000471736.1,ENST00000264426.9,ENST00000393815.2,ENST00000507898.1,ENST00000296526.7,ENST00000323661.6 |
| exon_skip_426844 | 4 | 158281047:158281295:158281860:158281901:158282161:158282276 | 158281860:158281901 | ENSG00000120251.14 | ENST00000323661.6 |
| exon_skip_426858 | 4 | 158281047:158281295:158282161:158282276:158283950:158283973 | 158282161:158282276 | ENSG00000120251.14 | ENST00000264426.9 |
| exon_skip_426864 | 4 | 158281047:158281295:158282689:158282804:158283950:158283973 | 158282689:158282804 | ENSG00000120251.14 | ENST00000449365.1,ENST00000471736.1,ENST00000510854.1,ENST00000393815.2,ENST00000507898.1,ENST00000296526.7 |
| exon_skip_426876 | 4 | 158282161:158282276:158282689:158282804:158283950:158283973 | 158282689:158282804 | ENSG00000120251.14 | ENST00000323661.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRIA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_426824 | 4 | 158141054:158141296:158142059:158142282:158142818:158142875 | 158142059:158142282 | ENSG00000120251.14 | ENST00000512774.1 |
| exon_skip_426826 | 4 | 158141842:158141877:158142059:158142282:158142818:158142875 | 158142059:158142282 | ENSG00000120251.14 | ENST00000509417.1 |
| exon_skip_426829 | 4 | 158233830:158234027:158238809:158238863:158242589:158242751 | 158238809:158238863 | ENSG00000120251.14 | ENST00000507898.1,ENST00000393815.2,ENST00000296526.7,ENST00000471736.1,ENST00000264426.9,ENST00000323661.6,ENST00000449365.1 |
| exon_skip_426841 | 4 | 158256822:158257029:158257528:158257899:158262415:158262614 | 158257528:158257899 | ENSG00000120251.14 | ENST00000507898.1,ENST00000393815.2,ENST00000296526.7,ENST00000471736.1,ENST00000264426.9,ENST00000323661.6,ENST00000449365.1 |
| exon_skip_426844 | 4 | 158281047:158281295:158281860:158281901:158282161:158282276 | 158281860:158281901 | ENSG00000120251.14 | ENST00000323661.6 |
| exon_skip_426858 | 4 | 158281047:158281295:158282161:158282276:158283950:158283973 | 158282161:158282276 | ENSG00000120251.14 | ENST00000264426.9 |
| exon_skip_426864 | 4 | 158281047:158281295:158282689:158282804:158283950:158283973 | 158282689:158282804 | ENSG00000120251.14 | ENST00000507898.1,ENST00000393815.2,ENST00000296526.7,ENST00000471736.1,ENST00000449365.1,ENST00000510854.1 |
| exon_skip_426876 | 4 | 158282161:158282276:158282689:158282804:158283950:158283973 | 158282689:158282804 | ENSG00000120251.14 | ENST00000323661.6 |
| 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 GRIA2 |
| 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 |
| ENST00000264426 | 158257528 | 158257899 | Frame-shift |
| ENST00000264426 | 158282161 | 158282276 | Frame-shift |
| ENST00000264426 | 158238809 | 158238863 | 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 |
| ENST00000264426 | 158257528 | 158257899 | Frame-shift |
| ENST00000264426 | 158282161 | 158282276 | Frame-shift |
| ENST00000264426 | 158238809 | 158238863 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIA2 |
| 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 |
| ENST00000264426 | 3462 | 883 | 158238809 | 158238863 | 946 | 999 | 222 | 240 |
| 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 |
| ENST00000264426 | 3462 | 883 | 158238809 | 158238863 | 946 | 999 | 222 | 240 |
| 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 |
| P42262 | 222 | 240 | 234 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 239 | 241 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 222 | 240 | 78 | 330 | Disulfide bond | . |
| P42262 | 222 | 240 | 213 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P42262 | 222 | 240 | 234 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 239 | 241 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 883 | Chain | ID=PRO_0000011532;Note=Glutamate receptor 2 |
| P42262 | 222 | 240 | 78 | 330 | Disulfide bond | . |
| P42262 | 222 | 240 | 213 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 230 | 232 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WJW |
| P42262 | 222 | 240 | 25 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for GRIA2 |
| - 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-G3-A3CJ-01 | exon_skip_426826 exon_skip_426824 | 158142060 | 158142282 | 158142241 | 158142241 | Frame_Shift_Del | G | - | p.W16fs |
| OV | TCGA-24-1565-01 | exon_skip_426841 | 158257529 | 158257899 | 158257676 | 158257682 | Frame_Shift_Del | CCTTTAG | - | p.P541fs |
| COAD | TCGA-G4-6586-01 | exon_skip_426841 | 158257529 | 158257899 | 158257707 | 158257707 | Frame_Shift_Del | T | - | p.V551fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_426864 exon_skip_426876 | 158282690 | 158282804 | 158282802 | 158282802 | Frame_Shift_Del | A | - | p.K802fs |
| ESCA | TCGA-IG-A6QS-01 | exon_skip_426841 | 158257529 | 158257899 | 158257574 | 158257574 | Nonsense_Mutation | G | T | p.E507X |
| LUSC | TCGA-22-5473-01 | exon_skip_426841 | 158257529 | 158257899 | 158257696 | 158257696 | Nonsense_Mutation | G | A | p.W547* |
| KIRP | TCGA-UZ-A9PZ-01 | exon_skip_426841 | 158257529 | 158257899 | 158257702 | 158257702 | Nonsense_Mutation | C | A | p.C549X |
| LUAD | TCGA-05-4398-01 | exon_skip_426841 | 158257529 | 158257899 | 158257770 | 158257770 | Nonsense_Mutation | G | A | p.W572* |
| STAD | TCGA-BR-8680-01 | exon_skip_426841 | 158257529 | 158257899 | 158257880 | 158257880 | Nonsense_Mutation | G | T | p.G609* |
| STAD | TCGA-BR-8680-01 | exon_skip_426841 | 158257529 | 158257899 | 158257880 | 158257880 | Nonsense_Mutation | G | T | p.G609X |
| UCEC | TCGA-D1-A16X-01 | exon_skip_426841 | 158257529 | 158257899 | 158257528 | 158257528 | Splice_Site | G | T | e11-1 |
| UCEC | TCGA-AP-A051-01 | exon_skip_426841 | 158257529 | 158257899 | 158257900 | 158257900 | Splice_Site | G | A | e11+1 |
| STAD | TCGA-VQ-A8DT-01 | exon_skip_426864 exon_skip_426876 | 158282690 | 158282804 | 158282688 | 158282688 | Splice_Site | A | 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158142060 | 158142282 | 158142199 | 158142199 | Frame_Shift_Del | A | - | p.Q2fs |
| LS180_LARGE_INTESTINE | 158257529 | 158257899 | 158257707 | 158257707 | Frame_Shift_Del | T | - | p.V551fs |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158142060 | 158142282 | 158142276 | 158142276 | Missense_Mutation | C | G | p.Q28E |
| NCIH1573_LUNG | 158238810 | 158238863 | 158238817 | 158238817 | Missense_Mutation | C | A | p.T225N |
| HS939T_SKIN | 158257529 | 158257899 | 158257550 | 158257550 | Missense_Mutation | C | T | p.P499S |
| NCIH2087_LUNG | 158257529 | 158257899 | 158257613 | 158257613 | Missense_Mutation | G | A | p.G520R |
| SARC9371_BONE | 158257529 | 158257899 | 158257627 | 158257627 | Missense_Mutation | G | A | p.M524I |
| RKO_LARGE_INTESTINE | 158257529 | 158257899 | 158257692 | 158257692 | Missense_Mutation | T | A | p.I546N |
| HEC108_ENDOMETRIUM | 158257529 | 158257899 | 158257704 | 158257704 | Missense_Mutation | T | C | p.I550T |
| NCIH1623_LUNG | 158257529 | 158257899 | 158257774 | 158257774 | Missense_Mutation | C | A | p.H573Q |
| NCIH513_PLEURA | 158257529 | 158257899 | 158257774 | 158257774 | Missense_Mutation | C | A | p.H573Q |
| SISO_CERVIX | 158257529 | 158257899 | 158257853 | 158257853 | Missense_Mutation | T | C | p.F600L |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158257529 | 158257899 | 158257853 | 158257853 | Missense_Mutation | T | C | p.F600L |
| CP67MEL_SKIN | 158257529 | 158257899 | 158257863 | 158257863 | Missense_Mutation | G | A | p.G603D |
| EVSAT_BREAST | 158257529 | 158257899 | 158257881 | 158257881 | Missense_Mutation | G | C | p.G609A |
| SW1271_LUNG | 158257529 | 158257899 | 158257886 | 158257886 | Missense_Mutation | G | C | p.D611H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 158282162 | 158282276 | 158282175 | 158282175 | Missense_Mutation | C | A | p.L769I |
| NCIH358_LUNG | 158282162 | 158282276 | 158282191 | 158282191 | Missense_Mutation | T | A | p.L774Q |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158282162 | 158282276 | 158282224 | 158282224 | Missense_Mutation | A | G | p.N785S |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158282162 | 158282276 | 158282256 | 158282258 | Missense_Mutation | AGC | CAT | p.S796H |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 158282162 | 158282276 | 158282276 | 158282276 | Splice_Site | G | T | p.K802N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA2 |
| 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 GRIA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIA2 |
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RelatedDrugs for GRIA2 |
| 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 |
| P42262 | DB00849 | Methylphenobarbital | Glutamate receptor 2 | small molecule | approved | |
| P42262 | DB00898 | Ethanol | Glutamate receptor 2 | small molecule | approved | |
| P42262 | DB13146 | Fluciclovine (18F) | Glutamate receptor 2 | small molecule | approved | |
| P42262 | DB00241 | Butalbital | Glutamate receptor 2 | small molecule | approved|illicit | |
| P42262 | DB00306 | Talbutal | Glutamate receptor 2 | small molecule | approved|illicit | |
| P42262 | DB01351 | Amobarbital | Glutamate receptor 2 | small molecule | approved|illicit | |
| P42262 | DB01353 | Butobarbital | Glutamate receptor 2 | small molecule | approved|illicit | |
| P42262 | DB01174 | Phenobarbital | Glutamate receptor 2 | small molecule | approved|investigational | |
| P42262 | DB00312 | Pentobarbital | Glutamate receptor 2 | small molecule | approved|investigational|vet_approved | |
| P42262 | DB00142 | Glutamic Acid | Glutamate receptor 2 | small molecule | approved|nutraceutical | |
| P42262 | DB00418 | Secobarbital | Glutamate receptor 2 | small molecule | approved|vet_approved | |
| P42262 | DB00599 | Thiopental | Glutamate receptor 2 | small molecule | approved|vet_approved | |
| P42262 | DB00794 | Primidone | Glutamate receptor 2 | small molecule | approved|vet_approved |
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RelatedDiseases for GRIA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GRIA2 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| GRIA2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| GRIA2 | C0041696 | Unipolar Depression | 2 | PSYGENET |
| GRIA2 | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| GRIA2 | C0038220 | Status Epilepticus | 1 | CTD_human |
| GRIA2 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| GRIA2 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| GRIA2 | C0424295 | Hyperactive behavior | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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