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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 NOX4 |
 Gene summary |
| Gene information | Gene symbol | NOX4 | Gene ID | 50507 |
| Gene name | NADPH oxidase 4 | |
| Synonyms | KOX|KOX-1|RENOX | |
| Cytomap | 11q14.3 | |
| Type of gene | protein-coding | |
| Description | NADPH oxidase 4kidney oxidase-1kidney superoxide-producing NADPH oxidaserenal NAD(P)H-oxidase | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NPH5 | |
| Context | PubMed: NOX4 [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 |
| NOX4 | GO:0006801 | superoxide metabolic process | 18760347 |
| NOX4 | GO:0050667 | homocysteine metabolic process | 20031578 |
| NOX4 | GO:0055114 | oxidation-reduction process | 10869423 |
| NOX4 | GO:0072593 | reactive oxygen species metabolic process | 10869423 |
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Exon skipping events across known transcript of Ensembl for NOX4 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 NOX4 |
| 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 NOX4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76663 | 11 | 89073293:89073339:89075241:89075361:89088129:89088211 | 89075241:89075361 | ENSG00000086991.8 | ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000375979.3,ENST00000529343.1,ENST00000263317.4,ENST00000413594.2,ENST00000527626.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76671 | 11 | 89088129:89088211:89106599:89106660:89133184:89133247 | 89106599:89106660 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000263317.4,ENST00000413594.2,ENST00000527626.1,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76672 | 11 | 89088129:89088211:89106599:89106660:89155069:89155150 | 89106599:89106660 | ENSG00000086991.8 | ENST00000529343.1 |
| exon_skip_76677 | 11 | 89106599:89106660:89133184:89133247:89133382:89133547 | 89133184:89133247 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000263317.4,ENST00000413594.2,ENST00000527626.1,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76678 | 11 | 89106599:89106660:89155069:89155150:89165951:89166024 | 89155069:89155150 | ENSG00000086991.8 | ENST00000529343.1 |
| exon_skip_76681 | 11 | 89133184:89133247:89133382:89133547:89135493:89135710 | 89133382:89133547 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000263317.4,ENST00000413594.2,ENST00000527626.1,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76682 | 11 | 89135493:89135710:89155069:89155150:89165951:89166024 | 89155069:89155150 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000263317.4,ENST00000413594.2,ENST00000527626.1,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76687 | 11 | 89177302:89177400:89182607:89182692:89184952:89185010 | 89182607:89182692 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000528341.1,ENST00000525278.1,ENST00000529343.1,ENST00000263317.4,ENST00000525196.1,ENST00000413594.2,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76694 | 11 | 89182607:89182692:89184952:89185063:89223625:89223721 | 89184952:89185063 | ENSG00000086991.8 | ENST00000534731.1,ENST00000527956.1,ENST00000542487.1,ENST00000424319.1,ENST00000525278.1,ENST00000529343.1,ENST00000263317.4,ENST00000525196.1,ENST00000413594.2,ENST00000532825.1,ENST00000343727.5,ENST00000535633.1 |
| exon_skip_76702 | 11 | 89223625:89223721:89225288:89225387:89231164:89231355 | 89225288:89225387 | ENSG00000086991.8 | ENST00000527956.1,ENST00000542487.1 |
| exon_skip_76717 | 11 | 89231178:89231355:89279804:89279863:89322607:89322779 | 89279804:89279863 | ENSG00000086991.8 | ENST00000542487.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NOX4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_76663 | 11 | 89073293:89073339:89075241:89075361:89088129:89088211 | 89075241:89075361 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000263317.4,ENST00000527956.1,ENST00000542487.1,ENST00000527626.1,ENST00000528341.1,ENST00000413594.2,ENST00000375979.3,ENST00000529343.1 |
| exon_skip_76671 | 11 | 89088129:89088211:89106599:89106660:89133184:89133247 | 89106599:89106660 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000527626.1,ENST00000528341.1,ENST00000413594.2 |
| exon_skip_76672 | 11 | 89088129:89088211:89106599:89106660:89155069:89155150 | 89106599:89106660 | ENSG00000086991.8 | ENST00000529343.1 |
| exon_skip_76673 | 11 | 89088129:89088211:89106599:89106660:89223625:89223721 | 89106599:89106660 | ENSG00000086991.8 | ENST00000531342.1,ENST00000375979.3 |
| exon_skip_76677 | 11 | 89106599:89106660:89133184:89133247:89133382:89133547 | 89133184:89133247 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000527626.1,ENST00000528341.1,ENST00000413594.2 |
| exon_skip_76678 | 11 | 89106599:89106660:89155069:89155150:89165951:89166024 | 89155069:89155150 | ENSG00000086991.8 | ENST00000529343.1 |
| exon_skip_76681 | 11 | 89133184:89133247:89133382:89133547:89135493:89135710 | 89133382:89133547 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000527626.1,ENST00000528341.1,ENST00000413594.2 |
| exon_skip_76682 | 11 | 89135493:89135710:89155069:89155150:89165951:89166024 | 89155069:89155150 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000527626.1,ENST00000528341.1,ENST00000413594.2 |
| exon_skip_76687 | 11 | 89177302:89177400:89182607:89182692:89184952:89185010 | 89182607:89182692 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000525196.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000528341.1,ENST00000413594.2,ENST00000529343.1,ENST00000525278.1 |
| exon_skip_76694 | 11 | 89182607:89182692:89184952:89185063:89223625:89223721 | 89184952:89185063 | ENSG00000086991.8 | ENST00000424319.1,ENST00000535633.1,ENST00000343727.5,ENST00000534731.1,ENST00000525196.1,ENST00000263317.4,ENST00000532825.1,ENST00000527956.1,ENST00000542487.1,ENST00000413594.2,ENST00000529343.1,ENST00000525278.1 |
| exon_skip_76702 | 11 | 89223625:89223721:89225288:89225387:89231164:89231355 | 89225288:89225387 | ENSG00000086991.8 | ENST00000527956.1,ENST00000542487.1 |
| 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 NOX4 |
| 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 |
| ENST00000263317 | 89106599 | 89106660 | Frame-shift |
| ENST00000263317 | 89182607 | 89182692 | Frame-shift |
| ENST00000263317 | 89075241 | 89075361 | In-frame |
| ENST00000263317 | 89133184 | 89133247 | In-frame |
| ENST00000263317 | 89133382 | 89133547 | In-frame |
| ENST00000263317 | 89155069 | 89155150 | In-frame |
| ENST00000263317 | 89184952 | 89185063 | 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 |
| ENST00000263317 | 89106599 | 89106660 | Frame-shift |
| ENST00000263317 | 89182607 | 89182692 | Frame-shift |
| ENST00000263317 | 89075241 | 89075361 | In-frame |
| ENST00000263317 | 89133184 | 89133247 | In-frame |
| ENST00000263317 | 89133382 | 89133547 | In-frame |
| ENST00000263317 | 89155069 | 89155150 | In-frame |
| ENST00000263317 | 89184952 | 89185063 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NOX4 |
| 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 |
| ENST00000263317 | 2405 | 578 | 89184952 | 89185063 | 393 | 503 | 51 | 88 |
| ENST00000263317 | 2405 | 578 | 89155069 | 89155150 | 788 | 868 | 183 | 209 |
| ENST00000263317 | 2405 | 578 | 89133382 | 89133547 | 1086 | 1250 | 282 | 337 |
| ENST00000263317 | 2405 | 578 | 89133184 | 89133247 | 1251 | 1313 | 337 | 358 |
| ENST00000263317 | 2405 | 578 | 89075241 | 89075361 | 1457 | 1576 | 406 | 445 |
| 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 |
| ENST00000263317 | 2405 | 578 | 89184952 | 89185063 | 393 | 503 | 51 | 88 |
| ENST00000263317 | 2405 | 578 | 89155069 | 89155150 | 788 | 868 | 183 | 209 |
| ENST00000263317 | 2405 | 578 | 89133382 | 89133547 | 1086 | 1250 | 282 | 337 |
| ENST00000263317 | 2405 | 578 | 89133184 | 89133247 | 1251 | 1313 | 337 | 358 |
| ENST00000263317 | 2405 | 578 | 89075241 | 89075361 | 1457 | 1576 | 406 | 445 |
| 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 |
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SNVs in the skipped exons for NOX4 |
| - 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_76681 | 89133383 | 89133547 | 89133522 | 89133522 | Frame_Shift_Del | A | - | p.L267fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_76687 | 89182608 | 89182692 | 89182656 | 89182656 | Frame_Shift_Del | T | - | p.S77fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_76694 | 89184953 | 89185063 | 89184999 | 89184999 | Frame_Shift_Del | A | - | p.L49fs |
| BLCA | TCGA-FD-A3SP-01 | exon_skip_76681 | 89133383 | 89133547 | 89133385 | 89133385 | Nonsense_Mutation | G | A | p.Q313* |
| BLCA | TCGA-FD-A3SP-01 | exon_skip_76681 | 89133383 | 89133547 | 89133385 | 89133385 | Nonsense_Mutation | G | A | p.Q337* |
| LUAD | TCGA-MN-A4N1-01 | exon_skip_76681 | 89133383 | 89133547 | 89133421 | 89133421 | Nonsense_Mutation | G | A | p.R301* |
| CESC | TCGA-EK-A2PG-01 | exon_skip_76681 | 89133383 | 89133547 | 89133529 | 89133529 | Nonsense_Mutation | C | A | p.G310* |
| LUAD | TCGA-MP-A4T4-01 | exon_skip_76681 | 89133383 | 89133547 | 89133529 | 89133529 | Nonsense_Mutation | C | A | p.G265* |
| LUSC | TCGA-60-2709-01 | exon_skip_76663 | 89075242 | 89075361 | 89075240 | 89075240 | Splice_Site | A | G | p.L446_splice |
| BLCA | TCGA-GD-A3OP-01 | 89106600 | 89106660 | 89106662 | 89106663 | Splice_Site | - | A | p.C359_splice | |
| GBM | TCGA-14-1395-01 | 89106600 | 89106660 | 89106662 | 89106663 | Splice_Site | - | A | p.C359_splice | |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_76681 | 89133383 | 89133547 | 89133548 | 89133548 | Splice_Site | C | A | e10-1 |
| - 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 |
| NCIH1436_LUNG | 89075242 | 89075361 | 89075307 | 89075307 | Missense_Mutation | C | A | p.E424D |
| COGAR359_SOFT_TISSUE | 89075242 | 89075361 | 89075311 | 89075311 | Missense_Mutation | T | C | p.Y423C |
| K5_THYROID | 89075242 | 89075361 | 89075311 | 89075311 | Missense_Mutation | T | C | p.Y423C |
| SNUC2A_LARGE_INTESTINE | 89106600 | 89106660 | 89106611 | 89106611 | Missense_Mutation | C | T | p.G375E |
| 2313287_STOMACH | 89106600 | 89106660 | 89106611 | 89106611 | Missense_Mutation | C | T | p.G375E |
| EN_ENDOMETRIUM | 89106600 | 89106660 | 89106611 | 89106611 | Missense_Mutation | C | T | p.G375E |
| SNUC2B_LARGE_INTESTINE | 89106600 | 89106660 | 89106611 | 89106611 | Missense_Mutation | C | T | p.G375E |
| VMRCRCZ_KIDNEY | 89106600 | 89106660 | 89106650 | 89106650 | Missense_Mutation | T | C | p.E362G |
| CAOV4_OVARY | 89133185 | 89133247 | 89133234 | 89133234 | Missense_Mutation | T | G | p.H342P |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89133185 | 89133247 | 89133240 | 89133240 | Missense_Mutation | G | A | p.T340I |
| CAL120_BREAST | 89133383 | 89133547 | 89133393 | 89133393 | Missense_Mutation | C | T | p.R334K |
| HS944T_SKIN | 89133383 | 89133547 | 89133409 | 89133409 | Missense_Mutation | C | T | p.E329K |
| DMS53_LUNG | 89133383 | 89133547 | 89133439 | 89133439 | Missense_Mutation | A | G | p.S319P |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89133383 | 89133547 | 89133448 | 89133448 | Missense_Mutation | T | G | p.S316R |
| 2313287_STOMACH | 89133383 | 89133547 | 89133475 | 89133475 | Missense_Mutation | T | C | p.K307E |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 89133383 | 89133547 | 89133510 | 89133510 | Missense_Mutation | C | T | p.C295Y |
| EN_ENDOMETRIUM | 89155070 | 89155150 | 89155121 | 89155121 | Missense_Mutation | G | T | p.T193N |
| FU97_STOMACH | 89155070 | 89155150 | 89155139 | 89155139 | Missense_Mutation | T | C | p.Y187C |
| SHP77_LUNG | 89182608 | 89182692 | 89182619 | 89182619 | Missense_Mutation | C | A | p.C113F |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89182608 | 89182692 | 89182676 | 89182676 | Missense_Mutation | G | A | p.T94I |
| LU99_LUNG | 89184953 | 89185063 | 89184987 | 89184987 | Missense_Mutation | C | T | p.R77Q |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89184953 | 89185063 | 89185038 | 89185038 | Missense_Mutation | G | A | p.S60L |
| EN_ENDOMETRIUM | 89133383 | 89133547 | 89133409 | 89133409 | Nonsense_Mutation | C | A | p.E329* |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89133383 | 89133547 | 89133543 | 89133543 | Nonsense_Mutation | C | T | p.W284* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOX4 |
| 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 NOX4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOX4 |
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RelatedDrugs for NOX4 |
| 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 NOX4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NOX4 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| NOX4 | C0018801 | Heart failure | 1 | CTD_human |
| NOX4 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| NOX4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| NOX4 | C1565489 | Renal Insufficiency | 1 | CTD_human |
| NOX4 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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