|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for AQP7 |
 Gene summary |
| Gene information | Gene symbol | AQP7 | Gene ID | 364 |
| Gene name | aquaporin 7 | |
| Synonyms | AQP7L|AQPap|GLYCQTL | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | aquaporin-7aquaglyceroporin-7aquaporin adipose | |
| Modification date | 20180523 | |
| UniProtAcc | O14520 | |
| Context | PubMed: AQP7 [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 |
Top |
Exon skipping events across known transcript of Ensembl for AQP7 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. |
 |
Top |
Gene isoform structures and expression levels for AQP7 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for AQP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503274 | 9 | 33385646:33385864:33386074:33386193:33386401:33386411 | 33386074:33386193 | ENSG00000165269.8 | ENST00000379506.3,ENST00000379507.3,ENST00000537089.1,ENST00000377425.4,ENST00000439678.1,ENST00000297988.1,ENST00000539936.1,ENST00000379503.4,ENST00000447660.1 |
| exon_skip_503277 | 9 | 33386401:33386539:33386966:33387090:33395075:33395147 | 33386966:33387090 | ENSG00000165269.8 | ENST00000379506.3,ENST00000379507.3,ENST00000297988.1,ENST00000539936.1 |
| exon_skip_503278 | 9 | 33386401:33386539:33386966:33387090:33401234:33401285 | 33386966:33387090 | ENSG00000165269.8 | ENST00000377425.4 |
| exon_skip_503284 | 9 | 33386401:33386539:33395075:33395193:33401234:33401285 | 33395075:33395193 | ENSG00000165269.8 | ENST00000537089.1,ENST00000541274.1 |
| exon_skip_503293 | 9 | 33386966:33387090:33395075:33395193:33401234:33401285 | 33395075:33395193 | ENSG00000165269.8 | ENST00000297988.1,ENST00000539936.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for AQP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_503274 | 9 | 33385646:33385864:33386074:33386193:33386401:33386411 | 33386074:33386193 | ENSG00000165269.8 | ENST00000537089.1,ENST00000447660.1,ENST00000379507.3,ENST00000297988.1,ENST00000377425.4,ENST00000439678.1,ENST00000379506.3,ENST00000539936.1,ENST00000379503.4 |
| exon_skip_503277 | 9 | 33386401:33386539:33386966:33387090:33395075:33395147 | 33386966:33387090 | ENSG00000165269.8 | ENST00000379507.3,ENST00000297988.1,ENST00000379506.3,ENST00000539936.1 |
| exon_skip_503278 | 9 | 33386401:33386539:33386966:33387090:33401234:33401285 | 33386966:33387090 | ENSG00000165269.8 | ENST00000377425.4 |
| exon_skip_503284 | 9 | 33386401:33386539:33395075:33395193:33401234:33401285 | 33395075:33395193 | ENSG00000165269.8 | ENST00000537089.1,ENST00000541274.1 |
| exon_skip_503293 | 9 | 33386966:33387090:33395075:33395193:33401234:33401285 | 33395075:33395193 | ENSG00000165269.8 | ENST00000297988.1,ENST00000539936.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for AQP7 |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for AQP7 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for AQP7 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| BRCA | TCGA-BH-A0HQ-01 | exon_skip_503278 exon_skip_503277 | 33386967 | 33387090 | 33387044 | 33387044 | Frame_Shift_Del | T | - | p.Y64fs |
| BRCA | TCGA-BH-A1FD-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395131 | 33395132 | Frame_Shift_Ins | - | CATCTTCCTC | p.Q30fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395131 | 33395132 | Frame_Shift_Ins | - | CATCTTCCTC | p.Q30fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395131 | 33395132 | Frame_Shift_Ins | - | CATCTTCCTC | p.Q30fs |
| BRCA | TCGA-E2-A1L8-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| BRCA | TCGA-E2-A1LB-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| BRCA | TCGA-E9-A1RE-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| BRCA | TCGA-EW-A1P8-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| LIHC | TCGA-EP-A12J-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.A29fs |
| TGCT | TCGA-2G-AAKD-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.A29fs |
| TGCT | TCGA-WZ-A8D5-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.A29fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395134 | 33395135 | Frame_Shift_Ins | - | CC | p.L29fs |
| BLCA | TCGA-5N-A9KM-01 | exon_skip_503284 exon_skip_503293 | 33395076 | 33395193 | 33395102 | 33395102 | Nonsense_Mutation | C | A | p.E40* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-E2-A1L8-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_503293 | |
| Skipped exon start: 33395076 | |
| Skipped exon end: 33395193 | |
| Mutation start: 33395134 | |
| Mutation end: 33395135 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: CC | |
| AAchange: p.L29fs | |
exon_skip_138094_BRCA_TCGA-E2-A1L8-01.png | |
exon_skip_503284_BRCA_TCGA-E2-A1L8-01.png | |
| - 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 |
| NCIH1048_LUNG | 33386075 | 33386193 | 33386126 | 33386126 | Frame_Shift_Del | A | - | p.F66fs |
| LS411N_LARGE_INTESTINE | 33386075 | 33386193 | 33386137 | 33386137 | Missense_Mutation | C | T | p.A63T |
| NB1_AUTONOMIC_GANGLIA | 33386075 | 33386193 | 33386142 | 33386142 | Missense_Mutation | G | T | p.A61D |
| MFE319_ENDOMETRIUM | 33386075 | 33386193 | 33386160 | 33386160 | Missense_Mutation | A | G | p.M55T |
| NCIH841_LUNG | 33386075 | 33386193 | 33386169 | 33386169 | Missense_Mutation | C | G | p.G52A |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33386075 | 33386193 | 33386175 | 33386175 | Missense_Mutation | G | A | p.S50L |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33386075 | 33386193 | 33386175 | 33386175 | Missense_Mutation | G | A | p.S50L |
| NCIH322_LUNG | 33386967 | 33387090 | 33386975 | 33386975 | Missense_Mutation | C | A | p.R87L |
| DMS53_LUNG | 33386967 | 33387090 | 33386976 | 33386976 | Missense_Mutation | G | T | p.R87S |
| KURAMOCHI_OVARY | 33386967 | 33387090 | 33386986 | 33386986 | Missense_Mutation | G | T | p.H83Q |
| SW48_LARGE_INTESTINE | 33386967 | 33387090 | 33386993 | 33386993 | Missense_Mutation | C | T | p.G81E |
| NCIH2172_LUNG | 33386967 | 33387090 | 33387019 | 33387019 | Missense_Mutation | C | A | p.L72F |
| COGN305_AUTONOMIC_GANGLIA | 33386967 | 33387090 | 33387083 | 33387083 | Missense_Mutation | C | A | p.G51V |
| NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33395076 | 33395193 | 33395104 | 33395104 | Missense_Mutation | G | A | p.A39V |
| HEC108_ENDOMETRIUM | 33395076 | 33395193 | 33395161 | 33395161 | Missense_Mutation | G | A | p.S20F |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33386075 | 33386193 | 33386175 | 33386175 | Nonsense_Mutation | G | T | p.S50* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AQP7 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AQP7 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AQP7 |
Top |
RelatedDrugs for AQP7 |
| 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 |
Top |
RelatedDiseases for AQP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AQP7 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| AQP7 | C0028754 | Obesity | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|