|
||||||
|
 | |
| |
| |
| 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 ENOX2 |
 Gene summary |
| Gene information | Gene symbol | ENOX2 | Gene ID | 10495 |
| Gene name | ecto-NOX disulfide-thiol exchanger 2 | |
| Synonyms | APK1|COVA1|tNOX | |
| Cytomap | Xq26.1 | |
| Type of gene | protein-coding | |
| Description | ecto-NOX disulfide-thiol exchanger 2APK1 antigencytosolic ovarian carcinoma antigen 1ecto-NADPH oxidase disulfide-thiol exchanger 2tumor-associated NADH oxidasetumor-associated hydroquinone oxidase | |
| 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 |
| ENOX2 | GO:0007624 | ultradian rhythm | 12356293 |
| ENOX2 | GO:0055114 | oxidation-reduction process | 11888291 |
Top |
Gene structures and expression levels for ENOX2 |
| 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. |
 |
ENSG00000165675
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ENOX2 |
| 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_181000 | chrX | 130703120:130703254:130709243:130709331:130783547:130783690 | 130709243:130709331 |
| exon_skip_21865 | chrX | 130709243:130709331:130783547:130783690:130901684:130901731 | 130783547:130783690 |
| exon_skip_269221 | chrX | 130679646:130679748:130688863:130689018:130703120:130703254 | 130688863:130689018 |
| exon_skip_273446 | chrX | 130627958:130628043:130631468:130631576:130634984:130635091 | 130631468:130631576 |
| exon_skip_286126 | chrX | 130703120:130703254:130783547:130783690:130901684:130901731 | 130783547:130783690 |
| exon_skip_35985 | chrX | 130783547:130783690:130901684:130901731:130903049:130903192 | 130901684:130901731 |
| exon_skip_84277 | chrX | 130669965:130670198:130679542:130679748:130688863:130689018 | 130679542:130679748 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ENOX2 |
| 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 |
| ENST00000338144 | 130709243 | 130709331 | 3UTR-3CDS |
| ENST00000338144 | 130783547 | 130783690 | 3UTR-3UTR |
| ENST00000338144 | 130679542 | 130679748 | In-frame |
| ENST00000370927 | 130679542 | 130679748 | In-frame |
| ENST00000338144 | 130688863 | 130689018 | In-frame |
| ENST00000370927 | 130688863 | 130689018 | 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 |
| ENST00000338144 | 130709243 | 130709331 | 3UTR-3CDS |
| ENST00000338144 | 130901684 | 130901731 | 3UTR-3UTR |
| ENST00000338144 | 130679542 | 130679748 | In-frame |
| ENST00000370927 | 130679542 | 130679748 | 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 |
| ENST00000338144 | 130709243 | 130709331 | 3UTR-3CDS |
| ENST00000338144 | 130783547 | 130783690 | 3UTR-3UTR |
| ENST00000338144 | 130631468 | 130631576 | Frame-shift |
| ENST00000370927 | 130631468 | 130631576 | Frame-shift |
| ENST00000338144 | 130679542 | 130679748 | In-frame |
| ENST00000370927 | 130679542 | 130679748 | In-frame |
| ENST00000338144 | 130688863 | 130689018 | In-frame |
| ENST00000370927 | 130688863 | 130689018 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ENOX2 |
p-ENSG00000165675_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 |
| ENST00000338144 | 4280 | 610 | 130688863 | 130689018 | 686 | 840 | 61 | 113 |
| ENST00000370927 | 3805 | 610 | 130688863 | 130689018 | 207 | 361 | 61 | 113 |
| ENST00000338144 | 4280 | 610 | 130679542 | 130679748 | 842 | 1047 | 113 | 182 |
| ENST00000370927 | 3805 | 610 | 130679542 | 130679748 | 363 | 568 | 113 | 182 |
| 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 |
| ENST00000338144 | 4280 | 610 | 130679542 | 130679748 | 842 | 1047 | 113 | 182 |
| ENST00000370927 | 3805 | 610 | 130679542 | 130679748 | 363 | 568 | 113 | 182 |
| 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 |
| ENST00000338144 | 4280 | 610 | 130688863 | 130689018 | 686 | 840 | 61 | 113 |
| ENST00000370927 | 3805 | 610 | 130688863 | 130689018 | 207 | 361 | 61 | 113 |
| ENST00000338144 | 4280 | 610 | 130679542 | 130679748 | 842 | 1047 | 113 | 182 |
| ENST00000370927 | 3805 | 610 | 130679542 | 130679748 | 363 | 568 | 113 | 182 |
| 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 |
| Q16206 | 61 | 113 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 61 | 113 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 61 | 113 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 61 | 113 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q16206 | 61 | 113 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 61 | 113 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 61 | 113 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 61 | 113 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 58 | 125 | Compositional bias | Note=Pro-rich |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q16206 | 113 | 182 | 123 | 123 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in ENOX2 |
| 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 |
| Mayo | ENST00000338144 | 130783547 | 130783690 | hsa-miR-4725-5p | chrX:130783664-130783671 | 8mer-1a | chrX:130783660-130783680 | 154.00 | -23.15 |
| Mayo | ENST00000338144 | 130783547 | 130783690 | hsa-miR-196a-1-3p | chrX:130783655-130783662 | 8mer-1a | chrX:130783649-130783671 | 141.00 | -23.68 |
| Mayo | ENST00000338144 | 130783547 | 130783690 | hsa-miR-580-3p | chrX:130783593-130783600 | 8mer-1a | chrX:130783592-130783617 | 169.00 | -25.48 |
| Mayo | ENST00000338144 | 130783547 | 130783690 | hsa-miR-504-5p | chrX:130783664-130783671 | 8mer-1a | chrX:130783660-130783680 | 154.00 | -23.15 |
| MSBB | ENST00000338144 | 130901684 | 130901731 | hsa-miR-432-5p | chrX:130901703-130901710 | 8mer-1a | chrX:130901688-130901710 | 149.00 | -20.10 |
| MSBB | ENST00000338144 | 130901684 | 130901731 | hsa-miR-4531 | chrX:130901701-130901708 | 8mer-1a | chrX:130901688-130901710 | 149.00 | -20.10 |
| ROSMAP | ENST00000338144 | 130783547 | 130783690 | hsa-miR-4725-5p | chrX:130783664-130783671 | 8mer-1a | chrX:130783660-130783680 | 154.00 | -23.15 |
| ROSMAP | ENST00000338144 | 130783547 | 130783690 | hsa-miR-196a-1-3p | chrX:130783655-130783662 | 8mer-1a | chrX:130783649-130783671 | 141.00 | -23.68 |
| ROSMAP | ENST00000338144 | 130783547 | 130783690 | hsa-miR-580-3p | chrX:130783593-130783600 | 8mer-1a | chrX:130783592-130783617 | 169.00 | -25.48 |
| ROSMAP | ENST00000338144 | 130783547 | 130783690 | hsa-miR-504-5p | chrX:130783664-130783671 | 8mer-1a | chrX:130783660-130783680 | 154.00 | -23.15 |
Top |
SNVs in the skipped exons for ENOX2 |
| - 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 |
Top |
AD stage-associated exon skippint events for ENOX2 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENOX2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for ENOX2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for ENOX2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ENOX2 |
| 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)
|