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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for GRIK3 |
Gene summary |
Gene information | Gene symbol | GRIK3 | Gene ID | 2899 |
Gene name | glutamate ionotropic receptor kainate type subunit 3 | |
Synonyms | EAA5|GLR7|GLUR7|GluK3|GluR7a | |
Cytomap | 1p34.3 | |
Type of gene | protein-coding | |
Description | glutamate receptor ionotropic, kainate 3dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7))excitatory amino acid receptor 5gluR-7glutamate receptor 7 | |
Modification date | 20180523 | |
UniProtAcc | Q13003 | |
Context | PubMed: GRIK3 [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 |
GRIK3 | GO:0007215 | glutamate receptor signaling pathway | 7719709 |
GRIK3 | GO:0007216 | G-protein coupled glutamate receptor signaling pathway | 9144652 |
GRIK3 | GO:0042391 | regulation of membrane potential | 11124978 |
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Exon skipping events across known transcript of Ensembl for GRIK3 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 GRIK3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GRIK3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_25115 | 1 | 37261127:37267646:37270587:37270838:37271704:37271927 | 37270587:37270838 | ENSG00000163873.5 | ENST00000373091.3 |
exon_skip_25118 | 1 | 37335348:37335402:37337788:37337970:37346234:37346492 | 37337788:37337970 | ENSG00000163873.5 | ENST00000373091.3,ENST00000373093.4 |
exon_skip_25119 | 1 | 37337788:37337970:37346234:37346492:37356520:37356697 | 37346234:37346492 | ENSG00000163873.5 | ENST00000373091.3,ENST00000373093.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GRIK3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_25118 | 1 | 37335348:37335402:37337788:37337970:37346234:37346492 | 37337788:37337970 | ENSG00000163873.5 | ENST00000373091.3,ENST00000373093.4 |
exon_skip_25119 | 1 | 37337788:37337970:37346234:37346492:37356520:37356697 | 37346234:37346492 | ENSG00000163873.5 | ENST00000373091.3,ENST00000373093.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GRIK3 |
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 |
ENST00000373091 | 37270587 | 37270838 | Frame-shift |
ENST00000373091 | 37337788 | 37337970 | Frame-shift |
ENST00000373091 | 37346234 | 37346492 | 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 |
ENST00000373091 | 37337788 | 37337970 | Frame-shift |
ENST00000373091 | 37346234 | 37346492 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRIK3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000373091 | 9118 | 919 | 37346234 | 37346492 | 310 | 567 | 97 | 183 |
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 |
ENST00000373091 | 9118 | 919 | 37346234 | 37346492 | 310 | 567 | 97 | 183 |
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 |
Q13003 | 97 | 183 | 32 | 919 | Chain | ID=PRO_0000011547;Note=Glutamate receptor ionotropic%2C kainate 3 |
Q13003 | 97 | 183 | 99 | 350 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q13003 | 97 | 183 | 32 | 563 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q13003 | 97 | 183 | 32 | 919 | Chain | ID=PRO_0000011547;Note=Glutamate receptor ionotropic%2C kainate 3 |
Q13003 | 97 | 183 | 99 | 350 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q13003 | 97 | 183 | 32 | 563 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for GRIK3 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-G3-A3CJ-01 | exon_skip_25115 | 37270588 | 37270838 | 37270724 | 37270724 | Frame_Shift_Del | T | - | p.N810fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_25118 | 37337789 | 37337970 | 37337803 | 37337803 | Frame_Shift_Del | G | - | p.Q240fs |
ESCA | TCGA-L5-A8NH-01 | exon_skip_25115 | 37270588 | 37270838 | 37270590 | 37270591 | Frame_Shift_Ins | - | CT | p.Q854fs |
STAD | TCGA-BR-4257-01 | exon_skip_25119 | 37346235 | 37346492 | 37346390 | 37346391 | Frame_Shift_Ins | - | G | p.H132fs |
STAD | TCGA-BR-4257-01 | exon_skip_25119 | 37346235 | 37346492 | 37346391 | 37346392 | Frame_Shift_Ins | - | G | p.H132fs |
SKCM | TCGA-GN-A266-06 | exon_skip_25115 | 37270588 | 37270838 | 37270698 | 37270698 | Nonsense_Mutation | G | A | p.Q819* |
SKCM | TCGA-GN-A266-06 | exon_skip_25115 | 37270588 | 37270838 | 37270698 | 37270698 | Nonsense_Mutation | G | A | p.Q819X |
LUSC | TCGA-33-4533-01 | exon_skip_25119 | 37346235 | 37346492 | 37346264 | 37346264 | Nonsense_Mutation | G | T | p.S174* |
SKCM | TCGA-EE-A2M5-06 | exon_skip_25119 | 37346235 | 37346492 | 37346270 | 37346270 | Nonsense_Mutation | C | T | p.W172* |
SKCM | TCGA-EE-A2M5-06 | exon_skip_25119 | 37346235 | 37346492 | 37346270 | 37346270 | Nonsense_Mutation | C | T | p.W172X |
- 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 |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37346235 | 37346492 | 37346391 | 37346391 | Frame_Shift_Del | G | - | p.H132fs |
MDAPCA2B_PROSTATE | 37270588 | 37270838 | 37270590 | 37270591 | Frame_Shift_Ins | - | CT | p.Q855fs |
LS180_LARGE_INTESTINE | 37270588 | 37270838 | 37270592 | 37270592 | Missense_Mutation | T | G | p.E854A |
HUTU80_SMALL_INTESTINE | 37270588 | 37270838 | 37270693 | 37270693 | Missense_Mutation | C | A | p.K820N |
SW48_LARGE_INTESTINE | 37270588 | 37270838 | 37270743 | 37270743 | Missense_Mutation | C | T | p.G804R |
SNU1040_LARGE_INTESTINE | 37270588 | 37270838 | 37270784 | 37270784 | Missense_Mutation | T | C | p.D790G |
MDAMB415_BREAST | 37270588 | 37270838 | 37270799 | 37270799 | Missense_Mutation | T | C | p.Q785R |
SISO_CERVIX | 37270588 | 37270838 | 37270811 | 37270811 | Missense_Mutation | A | G | p.I781T |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37270588 | 37270838 | 37270811 | 37270811 | Missense_Mutation | A | G | p.I781T |
MZ7MEL_SKIN | 37337789 | 37337970 | 37337797 | 37337797 | Missense_Mutation | G | A | p.L242F |
HEC151_ENDOMETRIUM | 37337789 | 37337970 | 37337814 | 37337814 | Missense_Mutation | G | A | p.T236I |
WM2664_SKIN | 37337789 | 37337970 | 37337818 | 37337818 | Missense_Mutation | G | T | p.H235N |
WM115_SKIN | 37337789 | 37337970 | 37337818 | 37337818 | Missense_Mutation | G | T | p.H235N |
OV90_OVARY | 37337789 | 37337970 | 37337838 | 37337838 | Missense_Mutation | C | T | p.R228H |
LS513_LARGE_INTESTINE | 37337789 | 37337970 | 37337839 | 37337839 | Missense_Mutation | G | A | p.R228C |
HT115_LARGE_INTESTINE | 37337789 | 37337970 | 37337845 | 37337845 | Missense_Mutation | C | T | p.E226K |
NCIBL1395_MATCHED_NORMAL_TISSUE | 37337789 | 37337970 | 37337856 | 37337856 | Missense_Mutation | T | A | p.K222M |
NCIH1395_LUNG | 37337789 | 37337970 | 37337856 | 37337856 | Missense_Mutation | T | A | p.K222M |
HEC251_ENDOMETRIUM | 37337789 | 37337970 | 37337869 | 37337869 | Missense_Mutation | G | A | p.L218F |
NCIH2141_LUNG | 37337789 | 37337970 | 37337870 | 37337870 | Missense_Mutation | C | A | p.L217F |
HCC15_LUNG | 37337789 | 37337970 | 37337919 | 37337919 | Missense_Mutation | C | A | p.R201L |
KYSE450_OESOPHAGUS | 37337789 | 37337970 | 37337961 | 37337961 | Missense_Mutation | C | A | p.R187L |
KM12_LARGE_INTESTINE | 37346235 | 37346492 | 37346268 | 37346268 | Missense_Mutation | G | A | p.R173W |
A2058_SKIN | 37346235 | 37346492 | 37346322 | 37346322 | Missense_Mutation | C | T | p.D155N |
OC316_OVARY | 37346235 | 37346492 | 37346345 | 37346345 | Missense_Mutation | G | A | p.T147I |
OC314_OVARY | 37346235 | 37346492 | 37346345 | 37346345 | Missense_Mutation | G | A | p.T147I |
LS180_LARGE_INTESTINE | 37346235 | 37346492 | 37346414 | 37346414 | Missense_Mutation | A | G | p.I124T |
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37346235 | 37346492 | 37346486 | 37346486 | Missense_Mutation | T | C | p.D100G |
NCIH841_LUNG | 37270588 | 37270838 | 37270629 | 37270629 | Nonsense_Mutation | C | A | p.E842* |
CME1_SOFT_TISSUE | 37337789 | 37337970 | 37337822 | 37337822 | Nonsense_Mutation | G | T | p.C233* |
SNU175_LARGE_INTESTINE | 37337789 | 37337970 | 37337854 | 37337854 | Nonsense_Mutation | G | A | p.R223* |
KMH2_THYROID | 37346235 | 37346492 | 37346278 | 37346278 | Nonsense_Mutation | G | C | p.Y169* |
MZ7MEL_SKIN | 37346235 | 37346492 | 37346492 | 37346492 | Splice_Site | G | A | p.A98V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRIK3 |
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 GRIK3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GRIK3 |
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RelatedDrugs for GRIK3 |
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 |
Q13003 | DB00142 | Glutamic Acid | Glutamate receptor ionotropic, kainate 3 | small molecule | approved|nutraceutical |
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RelatedDiseases for GRIK3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
GRIK3 | C0036341 | Schizophrenia | 5 | PSYGENET |
GRIK3 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
GRIK3 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
GRIK3 | C0011570 | Mental Depression | 1 | PSYGENET |
GRIK3 | C0011581 | Depressive disorder | 1 | PSYGENET |
GRIK3 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
GRIK3 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
GRIK3 | C0853193 | Bipolar I disorder | 1 | PSYGENET |