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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 SLC9A8 |
Gene summary |
Gene information | Gene symbol | SLC9A8 | Gene ID | 23315 |
Gene name | solute carrier family 9 member A8 | |
Synonyms | NHE-8|NHE8 | |
Cytomap | 20q13.13 | |
Type of gene | protein-coding | |
Description | sodium/hydrogen exchanger 8Na(+)/H(+) exchanger 8solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9 (sodium/hydrogen exchanger), member 8solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 | |
Modification date | 20200313 | |
UniProtAcc | Q9Y2E8, | |
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 SLC9A8 |
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 SLC9A8 |
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_243035 | chr20 | 49849579:49849680:49850810:49850844:49855438:49855581 | 49850810:49850844 |
exon_skip_283455 | chr20 | 49874705:49874821:49877981:49878063:49880924:49881035 | 49877981:49878063 |
exon_skip_43740 | chr20 | 49849579:49849680:49850762:49850844:49855438:49855581 | 49850762:49850844 |
exon_skip_52190 | chr20 | 49839541:49839599:49845036:49845119:49849579:49849680 | 49845036:49845119 |
exon_skip_7975 | chr20 | 49864739:49864844:49874705:49874821:49877981:49878063 | 49874705:49874821 |
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 SLC9A8 |
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 |
ENST00000361573 | 49850810 | 49850844 | Frame-shift |
ENST00000361573 | 49845036 | 49845119 | In-frame |
ENST00000361573 | 49874705 | 49874821 | 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 |
ENST00000361573 | 49850810 | 49850844 | Frame-shift |
ENST00000361573 | 49845036 | 49845119 | 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 |
ENST00000361573 | 49850810 | 49850844 | Frame-shift |
ENST00000361573 | 49877981 | 49878063 | Frame-shift |
ENST00000361573 | 49845036 | 49845119 | In-frame |
ENST00000361573 | 49874705 | 49874821 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC9A8 |
p-ENSG00000197818_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 |
ENST00000361573 | 6111 | 581 | 49845036 | 49845119 | 392 | 474 | 116 | 144 |
ENST00000361573 | 6111 | 581 | 49874705 | 49874821 | 1002 | 1117 | 320 | 358 |
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 |
ENST00000361573 | 6111 | 581 | 49845036 | 49845119 | 392 | 474 | 116 | 144 |
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 |
ENST00000361573 | 6111 | 581 | 49845036 | 49845119 | 392 | 474 | 116 | 144 |
ENST00000361573 | 6111 | 581 | 49874705 | 49874821 | 1002 | 1117 | 320 | 358 |
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 |
Q9Y2E8 | 116 | 144 | 1 | 581 | Chain | ID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8 |
Q9Y2E8 | 116 | 144 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9Y2E8 | 320 | 358 | 1 | 581 | Chain | ID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8 |
Q9Y2E8 | 320 | 358 | 311 | 331 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9Y2E8 | 320 | 358 | 354 | 374 | 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 |
Q9Y2E8 | 116 | 144 | 1 | 581 | Chain | ID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8 |
Q9Y2E8 | 116 | 144 | 123 | 143 | 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 |
Q9Y2E8 | 116 | 144 | 1 | 581 | Chain | ID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8 |
Q9Y2E8 | 116 | 144 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9Y2E8 | 320 | 358 | 1 | 581 | Chain | ID=PRO_0000052365;Note=Sodium/hydrogen exchanger 8 |
Q9Y2E8 | 320 | 358 | 311 | 331 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9Y2E8 | 320 | 358 | 354 | 374 | 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 SLC9A8 |
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 SLC9A8 |
- 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 SLC9A8 |
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 SLC9A8 |
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 SLC9A8 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SLC9A8 |
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 SLC9A8 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |