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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 AQP4-AS1 |
Gene summary |
Gene information | Gene symbol | AQP4-AS1 | Gene ID | 147429 |
Gene name | AQP4 antisense RNA 1 | |
Synonyms | C18orf16|CHST9-AS1 | |
Cytomap | 18q11.2 | |
Type of gene | ncRNA | |
Description | CHST9 antisense RNA 1 (non-protein coding) | |
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 AQP4-AS1 |
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 |
CB | DOWN | ENST00000664268.1 | AQP4-AS1-213:lncRNA:AQP4 | 7.250774e+00 | -1.502277e+00 | 1.149189e-03 | 5.809191e-03 |
CB | DOWN | ENST00000568797.3 | AQP4-AS1-201:lncRNA:AQP4 | 5.886015e+00 | -1.019670e+00 | 3.562340e-03 | 1.486221e-02 |
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 AQP4-AS1 |
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_103281 | chr18 | 26932993:26933122:26933616:26933749:26934280:26934720 | 26933616:26933749 |
exon_skip_109291 | chr18 | 26865333:26865360:26892871:26892992:26924760:26924845 | 26892871:26892992 |
exon_skip_114550 | chr18 | 26925817:26925862:26928245:26928398:26930670:26930725 | 26928245:26928398 |
exon_skip_117447 | chr18 | 26925817:26925862:26928245:26928398:26930670:26930727 | 26928245:26928398 |
exon_skip_18907 | chr18 | 26932993:26933122:26933616:26933749:26934280:26935079 | 26933616:26933749 |
exon_skip_195209 | chr18 | 26924760:26924845:27147698:27147778:27188743:27190698 | 27147698:27147778 |
exon_skip_239400 | chr18 | 26924760:26924845:26930681:26930823:26932993:26933112 | 26930681:26930823 |
exon_skip_249683 | chr18 | 26924760:26924845:26930681:26930823:26932993:26933122 | 26930681:26930823 |
exon_skip_269249 | chr18 | 26865333:26865360:26970283:26970358:26998032:26998768 | 26970283:26970358 |
exon_skip_285862 | chr18 | 26924760:26924845:26925817:26925862:26930670:26930725 | 26925817:26925862 |
exon_skip_293489 | chr18 | 26925817:26925862:26930670:26930823:26932993:26933122 | 26930670:26930823 |
exon_skip_60654 | chr18 | 26925817:26925862:26930681:26930823:26932993:26933122 | 26930681:26930823 |
exon_skip_72005 | chr18 | 26925817:26925862:26928245:26928398:26930681:26930823 | 26928245:26928398 |
exon_skip_80034 | chr18 | 26924760:26924845:26925817:26925862:26930681:26930823 | 26925817:26925862 |
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 AQP4-AS1 |
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 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for AQP4-AS1 |
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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AQP4-AS1 |
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 AQP4-AS1 |
- 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 AQP4-AS1 |
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 AQP4-AS1 |
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 AQP4-AS1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AQP4-AS1 |
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 AQP4-AS1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |