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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 GRIA4 |
 Gene summary |
| Gene information | Gene symbol | GRIA4 | Gene ID | 2893 |
| Gene name | glutamate ionotropic receptor AMPA type subunit 4 | |
| Synonyms | GLUR4|GLUR4C|GLURD|GluA4|NEDSGA | |
| Cytomap | 11q22.3 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor 4AMPA-selective glutamate receptor 4gluR-4gluR-Dglutamate receptor, ionotrophic, AMPA 4glutamate receptor, ionotropic, AMPA 4 | |
| Modification date | 20180523 | |
| UniProtAcc | P48058 | |
| Context | PubMed: GRIA4 [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 |
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Exon skipping events across known transcript of Ensembl for GRIA4 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 GRIA4 |
| 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 GRIA4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64699 | 11 | 105483002:105483161:105623706:105623946:105732749:105732934 | 105623706:105623946 | ENSG00000152578.8 | ENST00000428631.2,ENST00000525187.1,ENST00000393127.2,ENST00000530497.1,ENST00000393125.2,ENST00000525032.1,ENST00000282499.5 |
| exon_skip_64702 | 11 | 105804667:105804695:105816189:105816228:105836673:105836788 | 105816189:105816228 | ENSG00000152578.8 | ENST00000533094.1 |
| exon_skip_64706 | 11 | 105804667:105804695:105836673:105836788:105842640:105842755 | 105836673:105836788 | ENSG00000152578.8 | ENST00000525942.1 |
| exon_skip_64708 | 11 | 105804667:105804695:105836673:105836788:105845036:105845157 | 105836673:105836788 | ENSG00000152578.8 | ENST00000525187.1,ENST00000393127.2 |
| exon_skip_64709 | 11 | 105804667:105804695:105842640:105842755:105845036:105845157 | 105842640:105842755 | ENSG00000152578.8 | ENST00000530497.1,ENST00000282499.5 |
| exon_skip_64715 | 11 | 105816189:105816228:105836673:105836788:105845036:105845157 | 105836673:105836788 | ENSG00000152578.8 | ENST00000533094.1 |
| exon_skip_64719 | 11 | 105836673:105836788:105842640:105842755:105845036:105845157 | 105842640:105842755 | ENSG00000152578.8 | ENST00000525942.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRIA4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64699 | 11 | 105483002:105483161:105623706:105623946:105732749:105732934 | 105623706:105623946 | ENSG00000152578.8 | ENST00000393125.2,ENST00000282499.5,ENST00000393127.2,ENST00000525032.1,ENST00000428631.2,ENST00000525187.1,ENST00000530497.1 |
| exon_skip_64702 | 11 | 105804667:105804695:105816189:105816228:105836673:105836788 | 105816189:105816228 | ENSG00000152578.8 | ENST00000533094.1 |
| exon_skip_64706 | 11 | 105804667:105804695:105836673:105836788:105842640:105842755 | 105836673:105836788 | ENSG00000152578.8 | ENST00000525942.1 |
| exon_skip_64708 | 11 | 105804667:105804695:105836673:105836788:105845036:105845157 | 105836673:105836788 | ENSG00000152578.8 | ENST00000393127.2,ENST00000525187.1 |
| exon_skip_64709 | 11 | 105804667:105804695:105842640:105842755:105845036:105845157 | 105842640:105842755 | ENSG00000152578.8 | ENST00000282499.5,ENST00000530497.1 |
| exon_skip_64715 | 11 | 105816189:105816228:105836673:105836788:105845036:105845157 | 105836673:105836788 | ENSG00000152578.8 | ENST00000533094.1 |
| exon_skip_64719 | 11 | 105836673:105836788:105842640:105842755:105845036:105845157 | 105842640:105842755 | ENSG00000152578.8 | ENST00000525942.1 |
| 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 GRIA4 |
| 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 |
| ENST00000282499 | 105842640 | 105842755 | Frame-shift |
| ENST00000530497 | 105842640 | 105842755 | Frame-shift |
| ENST00000282499 | 105623706 | 105623946 | In-frame |
| ENST00000530497 | 105623706 | 105623946 | 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 |
| ENST00000282499 | 105842640 | 105842755 | Frame-shift |
| ENST00000530497 | 105842640 | 105842755 | Frame-shift |
| ENST00000282499 | 105623706 | 105623946 | In-frame |
| ENST00000530497 | 105623706 | 105623946 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIA4 |
| 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 |
| ENST00000282499 | 5525 | 902 | 105623706 | 105623946 | 694 | 933 | 82 | 162 |
| ENST00000530497 | 5076 | 902 | 105623706 | 105623946 | 248 | 487 | 82 | 162 |
| 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 |
| ENST00000282499 | 5525 | 902 | 105623706 | 105623946 | 694 | 933 | 82 | 162 |
| ENST00000530497 | 5076 | 902 | 105623706 | 105623946 | 248 | 487 | 82 | 162 |
| 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 |
| P48058 | 82 | 162 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 82 | 162 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 82 | 162 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 22 | 544 | 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 |
| P48058 | 82 | 162 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 82 | 162 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 82 | 162 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 82 | 162 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for GRIA4 |
| - 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 |
| STAD | TCGA-BR-7851-01 | exon_skip_64699 | 105623707 | 105623946 | 105623740 | 105623740 | Frame_Shift_Del | T | - | p.I94fs |
| LUAD | TCGA-78-7220-01 | exon_skip_64699 | 105623707 | 105623946 | 105623944 | 105623944 | Frame_Shift_Del | G | - | p.R162fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_64706 exon_skip_64708 exon_skip_64715 | 105836674 | 105836788 | 105836732 | 105836732 | Frame_Shift_Del | A | - | p.K785fs |
| LUAD | TCGA-17-Z003-01 | exon_skip_64699 | 105623707 | 105623946 | 105623720 | 105623720 | Nonsense_Mutation | T | A | p.Y87* |
| UCEC | TCGA-BS-A0TE-01 | exon_skip_64699 | 105623707 | 105623946 | 105623745 | 105623745 | Nonsense_Mutation | G | T | p.G96* |
| LUSC | TCGA-37-3783-01 | exon_skip_64699 | 105623707 | 105623946 | 105623869 | 105623869 | Nonsense_Mutation | C | A | p.S137* |
| SKCM | TCGA-FS-A1ZB-06 | exon_skip_64699 | 105623707 | 105623946 | 105623911 | 105623911 | Nonsense_Mutation | G | A | p.W151* |
| SKCM | TCGA-FS-A1ZB-06 | exon_skip_64699 | 105623707 | 105623946 | 105623911 | 105623911 | Nonsense_Mutation | G | A | p.W151X |
| STAD | TCGA-CG-4442-01 | exon_skip_64706 exon_skip_64708 exon_skip_64715 | 105836674 | 105836788 | 105836774 | 105836774 | Nonsense_Mutation | G | T | p.G799X |
| - 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 |
| SNU601_STOMACH | 105623707 | 105623946 | 105623716 | 105623716 | Missense_Mutation | A | C | p.Q86P |
| HEC251_ENDOMETRIUM | 105623707 | 105623946 | 105623764 | 105623764 | Missense_Mutation | C | T | p.S102L |
| DMS153_LUNG | 105623707 | 105623946 | 105623788 | 105623788 | Missense_Mutation | G | T | p.C110F |
| SNU175_LARGE_INTESTINE | 105623707 | 105623946 | 105623793 | 105623793 | Missense_Mutation | G | A | p.A112T |
| UACC257_SKIN | 105623707 | 105623946 | 105623869 | 105623869 | Missense_Mutation | C | T | p.S137L |
| NO11_CENTRAL_NERVOUS_SYSTEM | 105842641 | 105842755 | 105842706 | 105842706 | Missense_Mutation | A | C | p.K787T |
| TT_OESOPHAGUS | 105842641 | 105842755 | 105842717 | 105842717 | Missense_Mutation | G | A | p.D791N |
| M14_SKIN | 105842641 | 105842755 | 105842717 | 105842717 | Missense_Mutation | G | A | p.D791N |
| SNU1040_LARGE_INTESTINE | 105842641 | 105842755 | 105842717 | 105842717 | Missense_Mutation | G | A | p.D791N |
| MDAMB435S_SKIN | 105842641 | 105842755 | 105842717 | 105842717 | Missense_Mutation | G | A | p.D791N |
| HCC366_LUNG | 105842641 | 105842755 | 105842751 | 105842751 | Missense_Mutation | G | C | p.S802T |
| LAN6_AUTONOMIC_GANGLIA | 105623707 | 105623946 | 105623869 | 105623869 | Nonsense_Mutation | C | A | p.S137* |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105842641 | 105842755 | 105842712 | 105842712 | Nonsense_Mutation | G | A | p.W789* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA4 |
| 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 GRIA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIA4 |
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RelatedDrugs for GRIA4 |
| 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 |
| P48058 | DB00898 | Ethanol | Glutamate receptor 4 | small molecule | approved | |
| P48058 | DB13146 | Fluciclovine (18F) | Glutamate receptor 4 | small molecule | approved | |
| P48058 | DB00142 | Glutamic Acid | Glutamate receptor 4 | small molecule | approved|nutraceutical |
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RelatedDiseases for GRIA4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GRIA4 | C0036341 | Schizophrenia | 4 | PSYGENET |
| GRIA4 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| GRIA4 | C0027092 | Myopia | 1 | CTD_human |
| GRIA4 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| GRIA4 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| GRIA4 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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