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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 AQP8 |
 Gene summary |
| Gene information | Gene symbol | AQP8 | Gene ID | 343 |
| Gene name | aquaporin 8 | |
| Synonyms | AQP-8 | |
| Cytomap | 16p12.1 | |
| Type of gene | protein-coding | |
| Description | aquaporin-8 | |
| Modification date | 20180523 | |
| UniProtAcc | O94778 | |
| Context | PubMed: AQP8 [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 |
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Exon skipping events across known transcript of Ensembl for AQP8 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 AQP8 |
| 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 AQP8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134875 | 16 | 25228241:25228378:25228518:25228766:25232777:25232904 | 25228518:25228766 | ENSG00000103375.6 | ENST00000219660.5 |
| exon_skip_134881 | 16 | 25232777:25232904:25235682:25235897:25238388:25238523 | 25235682:25235897 | ENSG00000103375.6 | ENST00000219660.5,ENST00000566125.1 |
| exon_skip_134884 | 16 | 25235682:25235897:25238388:25238523:25239764:25240253 | 25238388:25238523 | ENSG00000103375.6 | ENST00000219660.5,ENST00000566125.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AQP8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134875 | 16 | 25228241:25228378:25228518:25228766:25232777:25232904 | 25228518:25228766 | ENSG00000103375.6 | ENST00000219660.5 |
| exon_skip_134881 | 16 | 25232777:25232904:25235682:25235897:25238388:25238523 | 25235682:25235897 | ENSG00000103375.6 | ENST00000566125.1,ENST00000219660.5 |
| exon_skip_134884 | 16 | 25235682:25235897:25238388:25238523:25239764:25240253 | 25238388:25238523 | ENSG00000103375.6 | ENST00000566125.1,ENST00000219660.5 |
| 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 AQP8 |
| 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 |
| ENST00000219660 | 25228518 | 25228766 | Frame-shift |
| ENST00000219660 | 25235682 | 25235897 | Frame-shift |
| ENST00000219660 | 25238388 | 25238523 | 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 |
| ENST00000219660 | 25228518 | 25228766 | Frame-shift |
| ENST00000219660 | 25235682 | 25235897 | Frame-shift |
| ENST00000219660 | 25238388 | 25238523 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AQP8 |
| 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 |
| ENST00000219660 | 1376 | 261 | 25238388 | 25238523 | 728 | 862 | 201 | 245 |
| 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 |
| ENST00000219660 | 1376 | 261 | 25238388 | 25238523 | 728 | 862 | 201 | 245 |
| 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 |
| O94778 | 201 | 245 | 1 | 261 | Chain | ID=PRO_0000063961;Note=Aquaporin-8 |
| O94778 | 201 | 245 | 210 | 212 | Motif | Note=NPA 2 |
| O94778 | 201 | 245 | 229 | 229 | Natural variant | ID=VAR_036484;Note=In a breast cancer sample%3B somatic mutation. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| O94778 | 201 | 245 | 205 | 228 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94778 | 201 | 245 | 184 | 204 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94778 | 201 | 245 | 229 | 249 | 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 |
| O94778 | 201 | 245 | 1 | 261 | Chain | ID=PRO_0000063961;Note=Aquaporin-8 |
| O94778 | 201 | 245 | 210 | 212 | Motif | Note=NPA 2 |
| O94778 | 201 | 245 | 229 | 229 | Natural variant | ID=VAR_036484;Note=In a breast cancer sample%3B somatic mutation. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| O94778 | 201 | 245 | 205 | 228 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94778 | 201 | 245 | 184 | 204 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94778 | 201 | 245 | 229 | 249 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for AQP8 |
| - 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-A39Y-01 | exon_skip_134881 | 25235683 | 25235897 | 25235728 | 25235728 | Frame_Shift_Del | T | - | p.F145fs |
| HNSC | TCGA-CV-A45W-01 | exon_skip_134875 | 25228519 | 25228766 | 25228596 | 25228596 | Nonsense_Mutation | G | A | p.W30* |
| COAD | TCGA-CM-6678-01 | exon_skip_134881 | 25235683 | 25235897 | 25235709 | 25235709 | Nonsense_Mutation | G | A | p.W138X |
| LUAD | TCGA-86-A4JF-01 | exon_skip_134884 | 25238389 | 25238523 | 25238510 | 25238510 | Nonsense_Mutation | G | T | p.G242* |
| STAD | TCGA-BR-6457-01 | exon_skip_134881 | 25235683 | 25235897 | 25235898 | 25235898 | Splice_Site | G | A | p.G201_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 |
| EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25228519 | 25228766 | 25228535 | 25228535 | Missense_Mutation | C | G | p.P10R |
| HEC251_ENDOMETRIUM | 25228519 | 25228766 | 25228610 | 25228610 | Missense_Mutation | T | C | p.V35A |
| SNU1040_LARGE_INTESTINE | 25228519 | 25228766 | 25228660 | 25228660 | Missense_Mutation | G | A | p.G52R |
| JHUEM7_ENDOMETRIUM | 25228519 | 25228766 | 25228711 | 25228711 | Missense_Mutation | G | A | p.A69T |
| NCIH1693_LUNG | 25228519 | 25228766 | 25228723 | 25228723 | Missense_Mutation | G | T | p.G73W |
| PC9_LUNG | 25228519 | 25228766 | 25228747 | 25228747 | Missense_Mutation | G | T | p.A81S |
| BT474_BREAST | 25235683 | 25235897 | 25235695 | 25235695 | Missense_Mutation | G | A | p.E134K |
| C75_LARGE_INTESTINE | 25235683 | 25235897 | 25235792 | 25235792 | Missense_Mutation | C | T | p.T166M |
| CCK81_LARGE_INTESTINE | 25235683 | 25235897 | 25235857 | 25235857 | Missense_Mutation | T | C | p.F188L |
| NCIH630_LARGE_INTESTINE | 25238389 | 25238523 | 25238411 | 25238411 | Missense_Mutation | A | T | p.M209L |
| KYSE450_OESOPHAGUS | 25238389 | 25238523 | 25238484 | 25238484 | Missense_Mutation | G | T | p.G233V |
| FTC238_THYROID | 25235683 | 25235897 | 25235897 | 25235897 | Splice_Site | G | T | p.G201V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AQP8 |
| 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 AQP8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AQP8 |
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RelatedDrugs for AQP8 |
| 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 AQP8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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