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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 GRIA3 |
 Gene summary |
| Gene information | Gene symbol | GRIA3 | Gene ID | 2892 |
| Gene name | glutamate ionotropic receptor AMPA type subunit 3 | |
| Synonyms | GLUR-C|GLUR-K3|GLUR3|GLURC|GluA3|MRX94 | |
| Cytomap | Xq25 | |
| Type of gene | protein-coding | |
| Description | glutamate receptor 3AMPA-selective glutamate receptor 3dJ1171F9.1gluR-3glutamate receptor Cglutamate receptor subunit 3glutamate receptor, ionotrophic, AMPA 3glutamate receptor, ionotropic, AMPA 3 | |
| Modification date | 20180523 | |
| UniProtAcc | P42263 | |
| Context | PubMed: GRIA3 [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 GRIA3 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 GRIA3 |
| 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 GRIA3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512251 | X | 122319683:122319842:122336487:122336633:122338250:122338534 | 122336487:122336633 | ENSG00000125675.13 | ENST00000371266.1,ENST00000371264.3 |
| exon_skip_512253 | X | 122319683:122319842:122387153:122387393:122459876:122460064 | 122387153:122387393 | ENSG00000125675.13 | ENST00000371251.1,ENST00000542149.1,ENST00000371256.5,ENST00000541091.1,ENST00000264357.5 |
| exon_skip_512256 | X | 122598715:122598963:122599524:122599639:122613913:122614028 | 122599524:122599639 | ENSG00000125675.13 | ENST00000542149.1 |
| exon_skip_512257 | X | 122598715:122598963:122599524:122599639:122616649:122616897 | 122599524:122599639 | ENSG00000125675.13 | ENST00000371251.1,ENST00000264357.5 |
| exon_skip_512258 | X | 122598715:122598963:122613913:122614028:122616649:122616897 | 122613913:122614028 | ENSG00000125675.13 | ENST00000371256.5 |
| exon_skip_512260 | X | 122599524:122599639:122613913:122614028:122616649:122616897 | 122613913:122614028 | ENSG00000125675.13 | ENST00000542149.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRIA3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512251 | X | 122319683:122319842:122336487:122336633:122338250:122338534 | 122336487:122336633 | ENSG00000125675.13 | ENST00000371266.1,ENST00000371264.3 |
| exon_skip_512253 | X | 122319683:122319842:122387153:122387393:122459876:122460064 | 122387153:122387393 | ENSG00000125675.13 | ENST00000264357.5,ENST00000542149.1,ENST00000371251.1,ENST00000371256.5,ENST00000541091.1 |
| exon_skip_512256 | X | 122598715:122598963:122599524:122599639:122613913:122614028 | 122599524:122599639 | ENSG00000125675.13 | ENST00000542149.1 |
| exon_skip_512257 | X | 122598715:122598963:122599524:122599639:122616649:122616897 | 122599524:122599639 | ENSG00000125675.13 | ENST00000264357.5,ENST00000371251.1 |
| exon_skip_512258 | X | 122598715:122598963:122613913:122614028:122616649:122616897 | 122613913:122614028 | ENSG00000125675.13 | ENST00000371256.5 |
| exon_skip_512260 | X | 122599524:122599639:122613913:122614028:122616649:122616897 | 122613913:122614028 | ENSG00000125675.13 | ENST00000542149.1 |
| 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 GRIA3 |
| 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 |
| ENST00000541091 | 122387153 | 122387393 | 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 |
| ENST00000541091 | 122387153 | 122387393 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIA3 |
| 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 |
| ENST00000541091 | 2186 | 894 | 122387153 | 122387393 | 248 | 487 | 73 | 153 |
| 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 |
| ENST00000541091 | 2186 | 894 | 122387153 | 122387393 | 248 | 487 | 73 | 153 |
| 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 |
| P42263 | 73 | 153 | 29 | 894 | Chain | ID=PRO_0000011536;Note=Glutamate receptor 3 |
| P42263 | 73 | 153 | 91 | 340 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42263 | 73 | 153 | 29 | 552 | 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 |
| P42263 | 73 | 153 | 29 | 894 | Chain | ID=PRO_0000011536;Note=Glutamate receptor 3 |
| P42263 | 73 | 153 | 91 | 340 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P42263 | 73 | 153 | 29 | 552 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for GRIA3 |
| - 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-DD-A3A0-01 | exon_skip_512256 exon_skip_512257 | 122599525 | 122599639 | 122599549 | 122599549 | Frame_Shift_Del | A | - | p.L783fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_512256 exon_skip_512257 | 122599525 | 122599639 | 122599563 | 122599563 | Frame_Shift_Del | A | - | p.Q788fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_512258 exon_skip_512260 | 122613914 | 122614028 | 122613972 | 122613972 | Frame_Shift_Del | A | - | p.K795fs |
| COAD | TCGA-D5-5539-01 | exon_skip_512251 | 122336488 | 122336633 | 122336603 | 122336604 | Frame_Shift_Ins | - | C | p.G128fs |
| UCS | TCGA-N6-A4VF-01 | exon_skip_512256 exon_skip_512257 | 122599525 | 122599639 | 122599593 | 122599593 | Nonsense_Mutation | G | A | p.W798* |
| - 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 |
| NCIH524_LUNG | 122387154 | 122387393 | 122387167 | 122387167 | Missense_Mutation | C | A | p.F94L |
| SNUC2A_LARGE_INTESTINE | 122387154 | 122387393 | 122387183 | 122387183 | Missense_Mutation | G | A | p.A100T |
| SNUC2B_LARGE_INTESTINE | 122387154 | 122387393 | 122387183 | 122387183 | Missense_Mutation | G | A | p.A100T |
| NCIH650_LUNG | 122387154 | 122387393 | 122387210 | 122387210 | Missense_Mutation | T | A | p.S109T |
| MCC13_SKIN | 122387154 | 122387393 | 122387229 | 122387229 | Missense_Mutation | C | T | p.S115F |
| EFM19_BREAST | 122387154 | 122387393 | 122387229 | 122387229 | Missense_Mutation | C | T | p.S115F |
| PANC0813_PANCREAS | 122387154 | 122387393 | 122387246 | 122387246 | Missense_Mutation | C | A | p.H121N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 122387154 | 122387393 | 122387348 | 122387348 | Missense_Mutation | C | T | p.H155Y |
| OACM51_OESOPHAGUS | 122599525 | 122599639 | 122599559 | 122599559 | Missense_Mutation | G | A | p.E787K |
| SNU81_LARGE_INTESTINE | 122599525 | 122599639 | 122599598 | 122599598 | Missense_Mutation | T | C | p.Y800H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIA3 |
| 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 GRIA3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIA3 |
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RelatedDrugs for GRIA3 |
| 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 |
| P42263 | DB00898 | Ethanol | Glutamate receptor 3 | small molecule | approved | |
| P42263 | DB13146 | Fluciclovine (18F) | Glutamate receptor 3 | small molecule | approved | |
| P42263 | DB00142 | Glutamic Acid | Glutamate receptor 3 | small molecule | approved|nutraceutical |
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RelatedDiseases for GRIA3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GRIA3 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| GRIA3 | C0011581 | Depressive disorder | 3 | PSYGENET |
| GRIA3 | C0011570 | Mental Depression | 2 | PSYGENET |
| GRIA3 | C0036341 | Schizophrenia | 2 | PSYGENET |
| GRIA3 | C0033953 | Psychosexual Disorders | 1 | CTD_human |
| GRIA3 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| GRIA3 | C2678051 | MENTAL RETARDATION, X-LINKED 94 (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
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