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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 GRIN2A |
 Gene summary |
| Gene information | Gene symbol | GRIN2A | Gene ID | 2903 |
| Gene name | glutamate ionotropic receptor NMDA type subunit 2A | |
| Synonyms | EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A | |
| Cytomap | 16p13.2 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor ionotropic, NMDA 2AN-methyl D-aspartate receptor subtype 2AN-methyl-D-aspartate receptor channel, subunit epsilon-1N-methyl-D-aspartate receptor subunit 2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 32475008(Neuronal deficiency of p38alpha-MAPK ameliorates symptoms and pathology of APP or Tau-transgenic Alzheimer's mouse models) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GRIN2A | GO:0045471 | response to ethanol | 18445116 |
| GRIN2A | GO:0097553 | calcium ion transmembrane import into cytosol | 26875626 |
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Gene structures and expression levels for GRIN2A |
| 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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ENSG00000183454
| 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 |
| CB | UP | ENST00000535259.5 | GRIN2A-205:protein_coding:GRIN2A | 9.468762e+00 | 1.024223e+00 | 6.303699e-03 | 2.381077e-02 |
| TC | DOWN | ENST00000636273.1 | GRIN2A-211:lncRNA:GRIN2A | 2.362926e+00 | -1.354383e+00 | 1.418096e-03 | 1.289641e-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 GRIN2A |
| 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_122740 | chr16 | 9938153:9938551:10179998:10180429:10181877:10181887 | 10179998:10180429 |
| exon_skip_128002 | chr16 | 9764839:9764948:9768851:9769089:9798277:9798464 | 9768851:9769089 |
| exon_skip_247163 | chr16 | 9822264:9822424:9829423:9829652:9834105:9834230 | 9829423:9829652 |
| exon_skip_7267 | chr16 | 9768851:9769089:9798277:9798464:9822264:9822424 | 9798277:9798464 |
| 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 GRIN2A |
| 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 |
| ENST00000330684 | 10179998 | 10180429 | 3UTR-3CDS |
| ENST00000396573 | 10179998 | 10180429 | 3UTR-3CDS |
| ENST00000330684 | 9798277 | 9798464 | Frame-shift |
| ENST00000396573 | 9798277 | 9798464 | Frame-shift |
| ENST00000330684 | 9829423 | 9829652 | Frame-shift |
| ENST00000396573 | 9829423 | 9829652 | Frame-shift |
| 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 |
| ENST00000330684 | 9798277 | 9798464 | Frame-shift |
| ENST00000396573 | 9798277 | 9798464 | Frame-shift |
| 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 |
| ENST00000330684 | 10179998 | 10180429 | 3UTR-3CDS |
| ENST00000396573 | 10179998 | 10180429 | 3UTR-3CDS |
| ENST00000330684 | 9768851 | 9769089 | Frame-shift |
| ENST00000396573 | 9768851 | 9769089 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GRIN2A |
p-ENSG00000183454_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GRIN2A |
| 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 GRIN2A |
| - 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 GRIN2A |
| 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 GRIN2A |
| 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 GRIN2A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GRIN2A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q12879 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | Q12879 |
| Q12879 | approved|nutraceutical|vet_approved | DB00145 | Glycine | small molecule | Q12879 |
| Q12879 | approved | DB00454 | Meperidine | small molecule | Q12879 |
| Q12879 | approved | DB00949 | Felbamate | small molecule | Q12879 |
| Q12879 | approved|investigational | DB01043 | Memantine | small molecule | Q12879 |
| Q12879 | approved|vet_approved | DB01159 | Halothane | small molecule | Q12879 |
| Q12879 | approved|investigational | DB06151 | Acetylcysteine | small molecule | Q12879 |
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RelatedDiseases for GRIN2A |
| 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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