|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for GRIA1 |
 Gene summary |
| Gene information | Gene symbol | GRIA1 | Gene ID | 2890 |
| Gene name | glutamate ionotropic receptor AMPA type subunit 1 | |
| Synonyms | GLUH1|GLUR1|GLURA|GluA1|HBGR1 | |
| Cytomap | 5q33.2 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor 1AMPA 1AMPA-selective glutamate receptor 1gluR-1gluR-AgluR-K1glutamate receptor, ionotropic, AMPA 1 | |
| Modification date | 20200329 | |
| UniProtAcc | C5IJI6, P42261, | |
| Context | - 27265785(Hippocampal proteomics defines pathways associated with memory decline and resilience in normal aging and Alzheimer's disease 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 |
Top |
Gene structures and expression levels for GRIA1 |
| 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. |
 |
ENSG00000155511
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GRIA1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_153437 | chr5 | 153650330:153650514:153655819:153655872:153674500:153674661 | 153655819:153655872 |
| exon_skip_159162 | chr5 | 153770168:153770415:153794621:153794735:153802356:153802490 | 153794621:153794735 |
| exon_skip_183899 | chr5 | 153770168:153770415:153795476:153795590:153802356:153802490 | 153795476:153795590 |
| exon_skip_213556 | chr5 | 153490268:153490449:153490929:153490970:153493928:153494065 | 153490929:153490970 |
| exon_skip_34248 | chr5 | 153493990:153494065:153646928:153647167:153650330:153650507 | 153646928:153647167 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GRIA1 |
| 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 |
| ENST00000285900 | 153794621 | 153794735 | Frame-shift |
| ENST00000285900 | 153646928 | 153647167 | In-frame |
| ENST00000285900 | 153655819 | 153655872 | 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 |
| ENST00000285900 | 153646928 | 153647167 | In-frame |
| ENST00000285900 | 153655819 | 153655872 | 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 |
| ENST00000285900 | 153794621 | 153794735 | Frame-shift |
| ENST00000285900 | 153646928 | 153647167 | In-frame |
| ENST00000285900 | 153655819 | 153655872 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for GRIA1 |
p-ENSG00000155511_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 |
| ENST00000285900 | 5725 | 906 | 153646928 | 153647167 | 565 | 803 | 74 | 153 |
| ENST00000285900 | 5725 | 906 | 153655819 | 153655872 | 990 | 1042 | 215 | 233 |
| 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 |
| ENST00000285900 | 5725 | 906 | 153646928 | 153647167 | 565 | 803 | 74 | 153 |
| ENST00000285900 | 5725 | 906 | 153655819 | 153655872 | 990 | 1042 | 215 | 233 |
| 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 |
| ENST00000285900 | 5725 | 906 | 153646928 | 153647167 | 565 | 803 | 74 | 153 |
| ENST00000285900 | 5725 | 906 | 153655819 | 153655872 | 990 | 1042 | 215 | 233 |
| 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 |
| P42261 | 74 | 153 | 74 | 154 | Alternative sequence | ID=VSP_045120;Note=In isoform 3. FCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRG->C;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P42261 | 74 | 153 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 74 | 153 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 74 | 153 | 19 | 536 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 215 | 233 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 536 | 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 |
| P42261 | 74 | 153 | 74 | 154 | Alternative sequence | ID=VSP_045120;Note=In isoform 3. FCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRG->C;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P42261 | 74 | 153 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 74 | 153 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 74 | 153 | 19 | 536 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 215 | 233 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 536 | 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 |
| P42261 | 74 | 153 | 74 | 154 | Alternative sequence | ID=VSP_045120;Note=In isoform 3. FCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQFVLQLRPELQDALISIIDHYKWQKFVYIYDADRG->C;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P42261 | 74 | 153 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 74 | 153 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 74 | 153 | 19 | 536 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 906 | Chain | ID=PRO_0000011529;Note=Glutamate receptor 1 |
| P42261 | 215 | 233 | 75 | 323 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42261 | 215 | 233 | 19 | 536 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in GRIA1 |
| 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 |
Top |
SNVs in the skipped exons for GRIA1 |
| - 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 |
Top |
AD stage-associated exon skippint events for GRIA1 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for GRIA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for GRIA1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P42261 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | P42261 |
| P42261 | approved|investigational|vet_approved | DB00228 | Enflurane | small molecule | P42261 |
| P42261 | approved | DB00273 | Topiramate | small molecule | P42261 |
| P42261 | approved|vet_approved | DB00753 | Isoflurane | small molecule | P42261 |
| P42261 | approved | DB00898 | Ethanol | small molecule | P42261 |
| P42261 | approved|investigational|vet_approved | DB01028 | Methoxyflurane | small molecule | P42261 |
| P42261 | approved | DB01189 | Desflurane | small molecule | P42261 |
| P42261 | approved|vet_approved | DB01236 | Sevoflurane | small molecule | P42261 |
| P42261 | approved | DB08883 | Perampanel | small molecule | P42261 |
| P42261 | approved | DB13146 | Fluciclovine (18F) | small molecule | P42261 |
Top |
RelatedDiseases for GRIA1 |
| 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)
|