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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 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 | 20180519 | |
| UniProtAcc | Q16206 | |
| Context | PubMed: ENOX2 [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 |
| ENOX2 | GO:0007624 | ultradian rhythm | 12356293 |
| ENOX2 | GO:0055114 | oxidation-reduction process | 11888291 |
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Exon skipping events across known transcript of Ensembl for ENOX2 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 ENOX2 |
| 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 ENOX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516702 | X | 129801503:129801716:129803938:129804172:129813515:129813722 | 129803938:129804172 | ENSG00000165675.12 | ENST00000370935.1,ENST00000394363.1,ENST00000338144.3,ENST00000370927.1,ENST00000432489.1 |
| exon_skip_516703 | X | 129803938:129804172:129813515:129813722:129822836:129822992 | 129813515:129813722 | ENSG00000165675.12 | ENST00000370935.1,ENST00000394363.1,ENST00000338144.3,ENST00000370927.1,ENST00000432489.1 |
| exon_skip_516704 | X | 129813619:129813722:129822836:129822992:129837093:129837228 | 129822836:129822992 | ENSG00000165675.12 | ENST00000370935.1,ENST00000492263.1,ENST00000394363.1,ENST00000338144.3,ENST00000370927.1,ENST00000432489.1 |
| exon_skip_516707 | X | 129837093:129837228:129843216:129843305:129917520:129917664 | 129843216:129843305 | ENSG00000165675.12 | ENST00000492263.1,ENST00000338144.3 |
| exon_skip_516714 | X | 129837093:129837228:129917520:129917664:130035657:130035705 | 129917520:129917664 | ENSG00000165675.12 | ENST00000394363.1,ENST00000432489.1 |
| exon_skip_516717 | X | 129843216:129843305:129917520:129917664:130035657:130035705 | 129917520:129917664 | ENSG00000165675.12 | ENST00000492263.1,ENST00000338144.3 |
| exon_skip_516722 | X | 129917520:129917664:130035657:130035705:130037022:130037166 | 130035657:130035705 | ENSG00000165675.12 | ENST00000492263.1,ENST00000394363.1,ENST00000338144.3,ENST00000432489.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ENOX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516702 | X | 129801503:129801716:129803938:129804172:129813515:129813722 | 129803938:129804172 | ENSG00000165675.12 | ENST00000370935.1,ENST00000370927.1,ENST00000338144.3,ENST00000394363.1,ENST00000432489.1 |
| exon_skip_516703 | X | 129803938:129804172:129813515:129813722:129822836:129822992 | 129813515:129813722 | ENSG00000165675.12 | ENST00000370935.1,ENST00000370927.1,ENST00000338144.3,ENST00000394363.1,ENST00000432489.1 |
| exon_skip_516704 | X | 129813619:129813722:129822836:129822992:129837093:129837228 | 129822836:129822992 | ENSG00000165675.12 | ENST00000370935.1,ENST00000370927.1,ENST00000338144.3,ENST00000394363.1,ENST00000432489.1,ENST00000492263.1 |
| exon_skip_516707 | X | 129837093:129837228:129843216:129843305:129917520:129917664 | 129843216:129843305 | ENSG00000165675.12 | ENST00000338144.3,ENST00000492263.1 |
| exon_skip_516714 | X | 129837093:129837228:129917520:129917664:130035657:130035705 | 129917520:129917664 | ENSG00000165675.12 | ENST00000394363.1,ENST00000432489.1 |
| exon_skip_516717 | X | 129843216:129843305:129917520:129917664:130035657:130035705 | 129917520:129917664 | ENSG00000165675.12 | ENST00000338144.3,ENST00000492263.1 |
| exon_skip_516722 | X | 129917520:129917664:130035657:130035705:130037022:130037166 | 130035657:130035705 | ENSG00000165675.12 | ENST00000338144.3,ENST00000394363.1,ENST00000432489.1,ENST00000492263.1 |
| 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 ENOX2 |
| 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 |
| ENST00000338144 | 129843216 | 129843305 | 3UTR-3CDS |
| ENST00000338144 | 129917520 | 129917664 | 3UTR-3UTR |
| ENST00000338144 | 130035657 | 130035705 | 3UTR-3UTR |
| ENST00000338144 | 129803938 | 129804172 | In-frame |
| ENST00000370927 | 129803938 | 129804172 | In-frame |
| ENST00000338144 | 129813515 | 129813722 | In-frame |
| ENST00000370927 | 129813515 | 129813722 | In-frame |
| ENST00000338144 | 129822836 | 129822992 | In-frame |
| ENST00000370927 | 129822836 | 129822992 | 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 |
| ENST00000338144 | 129843216 | 129843305 | 3UTR-3CDS |
| ENST00000338144 | 129917520 | 129917664 | 3UTR-3UTR |
| ENST00000338144 | 130035657 | 130035705 | 3UTR-3UTR |
| ENST00000338144 | 129803938 | 129804172 | In-frame |
| ENST00000370927 | 129803938 | 129804172 | In-frame |
| ENST00000338144 | 129813515 | 129813722 | In-frame |
| ENST00000370927 | 129813515 | 129813722 | In-frame |
| ENST00000338144 | 129822836 | 129822992 | In-frame |
| ENST00000370927 | 129822836 | 129822992 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ENOX2 |
| 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 |
| ENST00000338144 | 4201 | 610 | 129822836 | 129822992 | 603 | 758 | 61 | 113 |
| ENST00000370927 | 3805 | 610 | 129822836 | 129822992 | 207 | 362 | 61 | 113 |
| ENST00000338144 | 4201 | 610 | 129813515 | 129813722 | 759 | 965 | 113 | 182 |
| ENST00000370927 | 3805 | 610 | 129813515 | 129813722 | 363 | 569 | 113 | 182 |
| ENST00000338144 | 4201 | 610 | 129803938 | 129804172 | 966 | 1199 | 182 | 260 |
| ENST00000370927 | 3805 | 610 | 129803938 | 129804172 | 570 | 803 | 182 | 260 |
| 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 |
| ENST00000338144 | 4201 | 610 | 129822836 | 129822992 | 603 | 758 | 61 | 113 |
| ENST00000370927 | 3805 | 610 | 129822836 | 129822992 | 207 | 362 | 61 | 113 |
| ENST00000338144 | 4201 | 610 | 129813515 | 129813722 | 759 | 965 | 113 | 182 |
| ENST00000370927 | 3805 | 610 | 129813515 | 129813722 | 363 | 569 | 113 | 182 |
| ENST00000338144 | 4201 | 610 | 129803938 | 129804172 | 966 | 1199 | 182 | 260 |
| ENST00000370927 | 3805 | 610 | 129803938 | 129804172 | 570 | 803 | 182 | 260 |
| 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 |
| 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 |
| Q16206 | 182 | 260 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 182 | 260 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 182 | 260 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 182 | 260 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 182 | 260 | 202 | 202 | Natural variant | ID=VAR_069427;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=dbSNP:rs754363472,PMID:23033978 |
| Q16206 | 182 | 260 | 202 | 202 | Natural variant | ID=VAR_069427;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=dbSNP:rs754363472,PMID:23033978 |
| 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 |
| 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 |
| Q16206 | 182 | 260 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 182 | 260 | 1 | 610 | Chain | ID=PRO_0000079275;Note=Ecto-NOX disulfide-thiol exchanger 2 |
| Q16206 | 182 | 260 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 182 | 260 | 128 | 207 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q16206 | 182 | 260 | 202 | 202 | Natural variant | ID=VAR_069427;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=dbSNP:rs754363472,PMID:23033978 |
| Q16206 | 182 | 260 | 202 | 202 | Natural variant | ID=VAR_069427;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=dbSNP:rs754363472,PMID:23033978 |
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SNVs in the skipped exons for ENOX2 |
| - 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_516703 | 129813516 | 129813722 | 129813650 | 129813650 | Frame_Shift_Del | T | - | p.N138fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516703 | 129813516 | 129813722 | 129813678 | 129813678 | Frame_Shift_Del | T | - | p.T129fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516704 | 129822837 | 129822992 | 129822883 | 129822883 | Frame_Shift_Del | T | - | p.K98fs |
| BLCA | TCGA-5N-A9KI-01 | exon_skip_516702 | 129803939 | 129804172 | 129803977 | 129803977 | Nonsense_Mutation | G | C | p.S248* |
| LUSC | TCGA-66-2759-01 | exon_skip_516703 | 129813516 | 129813722 | 129813618 | 129813618 | Nonsense_Mutation | C | A | p.E149* |
| COAD | TCGA-CK-5916-01 | exon_skip_516704 | 129822837 | 129822992 | 129822994 | 129822995 | Splice_Site | - | A | . |
| - 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 |
| HCC2998_LARGE_INTESTINE | 129803939 | 129804172 | 129803949 | 129803949 | Missense_Mutation | T | G | p.E257D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129803939 | 129804172 | 129804014 | 129804014 | Missense_Mutation | A | T | p.L236M |
| HUH28_BILIARY_TRACT | 129803939 | 129804172 | 129804031 | 129804031 | Missense_Mutation | C | T | p.R230K |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129803939 | 129804172 | 129804065 | 129804065 | Missense_Mutation | G | A | p.R219C |
| LOVO_LARGE_INTESTINE | 129803939 | 129804172 | 129804066 | 129804066 | Missense_Mutation | C | A | p.Q218H |
| KP4_PANCREAS | 129803939 | 129804172 | 129804071 | 129804071 | Missense_Mutation | T | C | p.K217E |
| SW403_LARGE_INTESTINE | 129803939 | 129804172 | 129804166 | 129804166 | Missense_Mutation | C | G | p.R185P |
| HT55_LARGE_INTESTINE | 129813516 | 129813722 | 129813684 | 129813684 | Missense_Mutation | A | C | p.C127G |
| MCC13_SKIN | 129822837 | 129822992 | 129822957 | 129822957 | Missense_Mutation | G | A | p.P74S |
| VMCUB1_URINARY_TRACT | 129843217 | 129843305 | 129843229 | 129843229 | Missense_Mutation | T | A | p.I13L |
| HCC202_BREAST | 129843217 | 129843305 | 129843256 | 129843256 | Missense_Mutation | C | G | p.D4H |
| KYAE1_OESOPHAGUS | 129803939 | 129804172 | 129804078 | 129804078 | Nonsense_Mutation | C | T | p.W214* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENOX2 |
| 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 ENOX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENOX2 |
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RelatedDrugs for ENOX2 |
| 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 ENOX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ENOX2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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