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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 SLC13A3 |
Gene summary |
Gene information | Gene symbol | SLC13A3 | Gene ID | 64849 |
Gene name | solute carrier family 13 member 3 | |
Synonyms | ARLIAK|NADC3|SDCT2 | |
Cytomap | 20q13.12 | |
Type of gene | protein-coding | |
Description | solute carrier family 13 member 3Na(+)/dicarboxylate cotransporter 3hNaDC3naDC-3sodium-dependent high affinity dicarboxylate transporter 3 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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 SLC13A3 |
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. |
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. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SLC13A3 |
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_189961 | chr20 | 46610446:46610609:46613460:46613725:46651311:46651459 | 46613460:46613725 |
exon_skip_194199 | chr20 | 46596157:46596342:46599971:46600037:46610446:46610609 | 46599971:46600037 |
exon_skip_204382 | chr20 | 46575573:46575685:46583572:46583669:46588059:46588091 | 46583572:46583669 |
exon_skip_219854 | chr20 | 46583572:46583669:46588059:46588163:46589160:46589255 | 46588059:46588163 |
exon_skip_234870 | chr20 | 46596157:46596342:46599971:46600037:46610446:46610464 | 46599971:46600037 |
exon_skip_236155 | chr20 | 46566356:46566390:46575573:46575685:46583572:46583669 | 46575573:46575685 |
exon_skip_282991 | chr20 | 46575573:46575685:46583572:46583669:46589160:46589255 | 46583572:46583669 |
exon_skip_3437 | chr20 | 46596157:46596342:46610446:46610609:46613460:46613725 | 46610446:46610609 |
exon_skip_49845 | chr20 | 46610492:46610609:46613460:46613725:46651311:46651459 | 46613460:46613725 |
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 SLC13A3 |
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 |
ENST00000279027 | 46575573 | 46575685 | Frame-shift |
ENST00000279027 | 46583572 | 46583669 | Frame-shift |
ENST00000279027 | 46599971 | 46600037 | Frame-shift |
ENST00000279027 | 46613460 | 46613725 | Frame-shift |
ENST00000279027 | 46588059 | 46588163 | 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 |
ENST00000279027 | 46599971 | 46600037 | Frame-shift |
ENST00000279027 | 46588059 | 46588163 | 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 |
ENST00000279027 | 46575573 | 46575685 | Frame-shift |
ENST00000279027 | 46583572 | 46583669 | Frame-shift |
ENST00000279027 | 46599971 | 46600037 | Frame-shift |
ENST00000279027 | 46613460 | 46613725 | Frame-shift |
ENST00000279027 | 46588059 | 46588163 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC13A3 |
p-ENSG00000158296_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 |
ENST00000279027 | 4034 | 602 | 46588059 | 46588163 | 1036 | 1139 | 339 | 373 |
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 |
ENST00000279027 | 4034 | 602 | 46588059 | 46588163 | 1036 | 1139 | 339 | 373 |
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 |
ENST00000279027 | 4034 | 602 | 46588059 | 46588163 | 1036 | 1139 | 339 | 373 |
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 |
Q8WWT9 | 339 | 373 | 298 | 602 | Alternative sequence | ID=VSP_006124;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 340 | 374 | Alternative sequence | ID=VSP_015293;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q8WWT9 | 339 | 373 | 1 | 602 | Chain | ID=PRO_0000172492;Note=Solute carrier family 13 member 3 |
Q8WWT9 | 339 | 373 | 364 | 364 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 358 | 372 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 337 | 357 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 373 | 393 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q8WWT9 | 339 | 373 | 298 | 602 | Alternative sequence | ID=VSP_006124;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 340 | 374 | Alternative sequence | ID=VSP_015293;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q8WWT9 | 339 | 373 | 1 | 602 | Chain | ID=PRO_0000172492;Note=Solute carrier family 13 member 3 |
Q8WWT9 | 339 | 373 | 364 | 364 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 358 | 372 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 337 | 357 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 373 | 393 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q8WWT9 | 339 | 373 | 298 | 602 | Alternative sequence | ID=VSP_006124;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 340 | 374 | Alternative sequence | ID=VSP_015293;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q8WWT9 | 339 | 373 | 1 | 602 | Chain | ID=PRO_0000172492;Note=Solute carrier family 13 member 3 |
Q8WWT9 | 339 | 373 | 364 | 364 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WWT9 | 339 | 373 | 358 | 372 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 337 | 357 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8WWT9 | 339 | 373 | 373 | 393 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SLC13A3 |
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 SLC13A3 |
- 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 SLC13A3 |
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 SLC13A3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_236155 | rs7269152 | chr20:46482193 | 4.455751e-05 | 8.547073e-03 |
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Correlation with RNA binding proteins (RBPs) for SLC13A3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SLC13A3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SLC13A3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |