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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 AQP9 |
 Gene summary |
| Gene information | Gene symbol | AQP9 | Gene ID | 366 |
| Gene name | aquaporin 9 | |
| Synonyms | AQP-9|HsT17287|SSC1|T17287 | |
| Cytomap | 15q21.3 | |
| Type of gene | protein-coding | |
| Description | aquaporin-9aquaglyceroporin-9small solute channel 1 | |
| Modification date | 20180523 | |
| UniProtAcc | O43315 | |
| Context | PubMed: AQP9 [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 |
| AQP9 | GO:0006833 | water transport | 9733774 |
| AQP9 | GO:0006863 | purine nucleobase transport | 9733774 |
| AQP9 | GO:0010033 | response to organic substance | 9733774 |
| AQP9 | GO:0015791 | polyol transport | 9733774 |
| AQP9 | GO:0015837 | amine transport | 9733774 |
| AQP9 | GO:0015855 | pyrimidine nucleobase transport | 9733774 |
| AQP9 | GO:0046689 | response to mercury ion | 9733774 |
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Exon skipping events across known transcript of Ensembl for AQP9 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 AQP9 |
| 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 AQP9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122399 | 15 | 58458871:58458998:58465266:58465404:58467116:58467235 | 58465266:58465404 | ENSG00000103569.5 | ENST00000219919.4,ENST00000558772.1,ENST00000536493.1 |
| exon_skip_122401 | 15 | 58465266:58465404:58467116:58467235:58471326:58471544 | 58467116:58467235 | ENSG00000103569.5 | ENST00000219919.4,ENST00000558772.1,ENST00000536493.1 |
| exon_skip_122404 | 15 | 58467116:58467235:58471326:58471544:58476159:58476639 | 58471326:58471544 | ENSG00000103569.5 | ENST00000219919.4,ENST00000558772.1,ENST00000536493.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AQP9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_122399 | 15 | 58458871:58458998:58465266:58465404:58467116:58467235 | 58465266:58465404 | ENSG00000103569.5 | ENST00000558772.1,ENST00000219919.4,ENST00000536493.1 |
| exon_skip_122401 | 15 | 58465266:58465404:58467116:58467235:58471326:58471544 | 58467116:58467235 | ENSG00000103569.5 | ENST00000558772.1,ENST00000219919.4,ENST00000536493.1 |
| exon_skip_122404 | 15 | 58467116:58467235:58471326:58471544:58476159:58476639 | 58471326:58471544 | ENSG00000103569.5 | ENST00000558772.1,ENST00000219919.4,ENST00000536493.1 |
| 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 AQP9 |
| 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 |
| ENST00000219919 | 58467116 | 58467235 | Frame-shift |
| ENST00000536493 | 58467116 | 58467235 | Frame-shift |
| ENST00000219919 | 58471326 | 58471544 | Frame-shift |
| ENST00000536493 | 58471326 | 58471544 | Frame-shift |
| ENST00000219919 | 58465266 | 58465404 | In-frame |
| ENST00000536493 | 58465266 | 58465404 | 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 |
| ENST00000219919 | 58467116 | 58467235 | Frame-shift |
| ENST00000536493 | 58467116 | 58467235 | Frame-shift |
| ENST00000219919 | 58471326 | 58471544 | Frame-shift |
| ENST00000536493 | 58471326 | 58471544 | Frame-shift |
| ENST00000219919 | 58465266 | 58465404 | In-frame |
| ENST00000536493 | 58465266 | 58465404 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AQP9 |
| 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 |
| ENST00000219919 | 3051 | 295 | 58465266 | 58465404 | 609 | 746 | 79 | 125 |
| ENST00000536493 | 2820 | 295 | 58465266 | 58465404 | 424 | 561 | 79 | 125 |
| 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 |
| ENST00000219919 | 3051 | 295 | 58465266 | 58465404 | 609 | 746 | 79 | 125 |
| ENST00000536493 | 2820 | 295 | 58465266 | 58465404 | 424 | 561 | 79 | 125 |
| 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 |
| O43315 | 79 | 125 | 1 | 295 | Chain | ID=PRO_0000063964;Note=Aquaporin-9 |
| O43315 | 79 | 125 | 1 | 295 | Chain | ID=PRO_0000063964;Note=Aquaporin-9 |
| O43315 | 79 | 125 | 84 | 86 | Motif | Note=NPA 1 |
| O43315 | 79 | 125 | 84 | 86 | Motif | Note=NPA 1 |
| O43315 | 79 | 125 | 76 | 110 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 76 | 110 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 111 | 131 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 111 | 131 | Transmembrane | Note=Helical;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 |
| O43315 | 79 | 125 | 1 | 295 | Chain | ID=PRO_0000063964;Note=Aquaporin-9 |
| O43315 | 79 | 125 | 1 | 295 | Chain | ID=PRO_0000063964;Note=Aquaporin-9 |
| O43315 | 79 | 125 | 84 | 86 | Motif | Note=NPA 1 |
| O43315 | 79 | 125 | 84 | 86 | Motif | Note=NPA 1 |
| O43315 | 79 | 125 | 76 | 110 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 76 | 110 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 111 | 131 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43315 | 79 | 125 | 111 | 131 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for AQP9 |
| - 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-A1EG-01 | exon_skip_122399 | 58465267 | 58465404 | 58465280 | 58465280 | Frame_Shift_Del | C | - | p.N84fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122401 | 58467117 | 58467235 | 58467142 | 58467142 | Frame_Shift_Del | A | - | p.G134fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_122401 | 58467117 | 58467235 | 58467162 | 58467162 | Frame_Shift_Del | A | - | p.E141fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_122401 | 58467117 | 58467235 | 58467180 | 58467180 | Frame_Shift_Del | T | - | p.I147fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_122404 | 58471327 | 58471544 | 58471368 | 58471368 | Frame_Shift_Del | C | - | p.I179fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_122404 | 58471327 | 58471544 | 58471368 | 58471368 | Frame_Shift_Del | C | - | p.I179fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_122404 | 58471327 | 58471544 | 58471479 | 58471479 | Frame_Shift_Del | C | - | p.N216fs |
| ESCA | TCGA-Z6-AAPN-01 | exon_skip_122399 | 58465267 | 58465404 | 58465266 | 58465266 | Splice_Site | G | T | . |
| LUAD | TCGA-44-4112-01 | exon_skip_122399 | 58465267 | 58465404 | 58465266 | 58465266 | Splice_Site | G | T | p.G80_splice |
| - 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 |
| NCIH1666_LUNG | 58465267 | 58465404 | 58465330 | 58465330 | Missense_Mutation | A | C | p.K101T |
| TUHR4TKB_KIDNEY | 58465267 | 58465404 | 58465369 | 58465369 | Missense_Mutation | T | A | p.F114Y |
| HEC59_ENDOMETRIUM | 58465267 | 58465404 | 58465386 | 58465386 | Missense_Mutation | G | A | p.V120I |
| HEC251_ENDOMETRIUM | 58465267 | 58465404 | 58465387 | 58465387 | Missense_Mutation | T | C | p.V120A |
| GIMEN_AUTONOMIC_GANGLIA | 58467117 | 58467235 | 58467144 | 58467144 | Missense_Mutation | A | G | p.K135R |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58471327 | 58471544 | 58471358 | 58471358 | Missense_Mutation | T | A | p.V176D |
| MEWO_SKIN | 58471327 | 58471544 | 58471393 | 58471393 | Missense_Mutation | C | T | p.P188S |
| NCIH1373_LUNG | 58471327 | 58471544 | 58471454 | 58471454 | Missense_Mutation | G | T | p.G208V |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 58471327 | 58471544 | 58471469 | 58471469 | Missense_Mutation | G | C | p.C213S |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58467117 | 58467235 | 58467233 | 58467233 | Nonsense_Mutation | C | T | p.Q165* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AQP9 |
| 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 AQP9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AQP9 |
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RelatedDrugs for AQP9 |
| 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 |
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RelatedDiseases for AQP9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AQP9 | C0023418 | leukemia | 1 | CTD_human |
| AQP9 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| AQP9 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| AQP9 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| AQP9 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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