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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 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 | 20200313 | |
| UniProtAcc | ||
| Context | - 30889441(Profiling of Alzheimer's disease related genes in mild to moderate vitamin D hypovitaminosis) |
| 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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Gene structures and expression levels for GRIA4 |
| 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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ENSG00000152578
| 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 |
| TC | DOWN | ENST00000393127.6 | GRIA4-203:protein_coding:GRIA4 | 1.717577e+02 | -8.505766e-01 | 4.109434e-03 | 2.889523e-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 GRIA4 |
| 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_125541 | chr11 | 105933942:105933969:105971914:105972028:105974310:105974430 | 105971914:105972028 |
| exon_skip_126393 | chr11 | 105910435:105910545:105918712:105918918:105924399:105924769 | 105918712:105918918 |
| exon_skip_174497 | chr11 | 105905197:105905301:105910435:105910545:105918712:105918918 | 105910435:105910545 |
| exon_skip_237334 | chr11 | 105933942:105933969:105965947:105966061:105971914:105972028 | 105965947:105966061 |
| exon_skip_255912 | chr11 | 105965947:105966061:105971914:105972028:105974310:105974430 | 105971914:105972028 |
| exon_skip_266961 | chr11 | 105910462:105910545:105918712:105918918:105924399:105924769 | 105918712:105918918 |
| exon_skip_283229 | chr11 | 105903814:105903981:105905197:105905301:105910435:105910545 | 105905197:105905301 |
| exon_skip_29074 | chr11 | 105862024:105862208:105887519:105887572:105898269:105898427 | 105887519:105887572 |
| exon_skip_35916 | chr11 | 105933808:105933969:105945463:105945501:105965947:105966061 | 105945463:105945501 |
| exon_skip_3603 | chr11 | 105933942:105933969:105965947:105966061:105974310:105974430 | 105965947:105966061 |
| exon_skip_45375 | chr11 | 105933808:105933969:105965947:105966061:105971914:105972028 | 105965947:105966061 |
| exon_skip_61937 | chr11 | 105933942:105933969:105945463:105945501:105965947:105966061 | 105945463:105945501 |
| exon_skip_89925 | chr11 | 105945463:105945501:105965947:105966061:105974310:105974430 | 105965947:105966061 |
| 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 GRIA4 |
| 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 |
| ENST00000282499 | 105918712 | 105918918 | In-frame |
| ENST00000530497 | 105918712 | 105918918 | 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 |
| ENST00000282499 | 105918712 | 105918918 | In-frame |
| ENST00000530497 | 105918712 | 105918918 | 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 |
| ENST00000282499 | 105971914 | 105972028 | Frame-shift |
| ENST00000530497 | 105971914 | 105972028 | Frame-shift |
| ENST00000282499 | 105887519 | 105887572 | In-frame |
| ENST00000530497 | 105887519 | 105887572 | In-frame |
| ENST00000282499 | 105905197 | 105905301 | In-frame |
| ENST00000530497 | 105905197 | 105905301 | In-frame |
| ENST00000282499 | 105910435 | 105910545 | In-frame |
| ENST00000530497 | 105910435 | 105910545 | In-frame |
| ENST00000282499 | 105918712 | 105918918 | In-frame |
| ENST00000530497 | 105918712 | 105918918 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIA4 |
p-ENSG00000152578_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 |
| ENST00000282499 | 5525 | 902 | 105918712 | 105918918 | 1717 | 1922 | 423 | 492 |
| ENST00000530497 | 5076 | 902 | 105918712 | 105918918 | 1271 | 1476 | 423 | 492 |
| 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 |
| ENST00000282499 | 5525 | 902 | 105918712 | 105918918 | 1717 | 1922 | 423 | 492 |
| ENST00000530497 | 5076 | 902 | 105918712 | 105918918 | 1271 | 1476 | 423 | 492 |
| 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 |
| ENST00000282499 | 5525 | 902 | 105887519 | 105887572 | 1120 | 1172 | 224 | 242 |
| ENST00000530497 | 5076 | 902 | 105887519 | 105887572 | 674 | 726 | 224 | 242 |
| ENST00000282499 | 5525 | 902 | 105905197 | 105905301 | 1501 | 1604 | 351 | 386 |
| ENST00000530497 | 5076 | 902 | 105905197 | 105905301 | 1055 | 1158 | 351 | 386 |
| ENST00000282499 | 5525 | 902 | 105910435 | 105910545 | 1606 | 1715 | 386 | 423 |
| ENST00000530497 | 5076 | 902 | 105910435 | 105910545 | 1160 | 1269 | 386 | 423 |
| ENST00000282499 | 5525 | 902 | 105918712 | 105918918 | 1717 | 1922 | 423 | 492 |
| ENST00000530497 | 5076 | 902 | 105918712 | 105918918 | 1271 | 1476 | 423 | 492 |
| 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 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P48058 | 224 | 242 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 224 | 242 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 224 | 242 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 224 | 242 | 84 | 331 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 224 | 242 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 224 | 242 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 351 | 386 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 351 | 386 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 351 | 386 | 371 | 371 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 351 | 386 | 371 | 371 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 351 | 386 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 351 | 386 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 386 | 423 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 386 | 423 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 386 | 423 | 407 | 407 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 386 | 423 | 407 | 407 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 386 | 423 | 414 | 414 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 386 | 423 | 414 | 414 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P48058 | 386 | 423 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 386 | 423 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 424 | 433 | Alternative sequence | ID=VSP_042742;Note=In isoform 2. ESPYVMYKKN->PLMKNPILRN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 434 | 902 | Alternative sequence | ID=VSP_042743;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 472 | 472 | Binding site | Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 21 | 902 | Chain | ID=PRO_0000011538;Note=Glutamate receptor 4 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48058 | 423 | 492 | 22 | 544 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GRIA4 |
| 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 GRIA4 |
| - 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 GRIA4 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_237334 | rs10160360 | chr11:106048212 | 1.333372e-08 | 8.066141e-06 |
| CB | exon_skip_237334 | rs2846216 | chr11:105988106 | 1.380721e-08 | 8.308063e-06 |
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Correlation with RNA binding proteins (RBPs) for GRIA4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GRIA4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P48058 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | P48058 |
| P48058 | approved | DB00898 | Ethanol | small molecule | P48058 |
| P48058 | approved | DB13146 | Fluciclovine (18F) | small molecule | P48058 |
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RelatedDiseases for GRIA4 |
| 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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