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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 NDUFA5 |
 Gene summary |
| Gene information | Gene symbol | NDUFA5 | Gene ID | 4698 |
| Gene name | NADH:ubiquinone oxidoreductase subunit A5 | |
| Synonyms | B13|CI-13KD-B|CI-13kB|NUFM|UQOR13 | |
| Cytomap | 7q31.32 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDaNADH-ubiquinone oxidoreductase 13 kDa-B subunitcomplex I 13kDa subunit Bcomplex I subunit B13type I dehydrogenaseubiquinone reduc | |
| Modification date | 20180522 | |
| UniProtAcc | Q16718 | |
| Context | PubMed: NDUFA5 [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 NDUFA5 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 NDUFA5 |
| 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 NDUFA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479338 | 7 | 123182054:123182274:123185664:123185730:123190523:123190640 | 123185664:123185730 | ENSG00000128609.10 | ENST00000471770.1,ENST00000378795.4,ENST00000355749.2,ENST00000467117.1 |
| exon_skip_479340 | 7 | 123185664:123185730:123186711:123186871:123190523:123190640 | 123186711:123186871 | ENSG00000128609.10 | ENST00000466896.1 |
| exon_skip_479342 | 7 | 123185664:123185730:123190523:123190640:123197457:123197502 | 123190523:123190640 | ENSG00000128609.10 | ENST00000471770.1,ENST00000378795.4,ENST00000355749.2,ENST00000470123.1 |
| exon_skip_479343 | 7 | 123190523:123190640:123191421:123191630:123197457:123197502 | 123191421:123191630 | ENSG00000128609.10 | ENST00000491033.1,ENST00000467117.1 |
| exon_skip_479344 | 7 | 123190523:123190640:123197457:123197502:123197828:123197855 | 123197457:123197502 | ENSG00000128609.10 | ENST00000492549.1,ENST00000355749.2,ENST00000466896.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NDUFA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_479338 | 7 | 123182054:123182274:123185664:123185730:123190523:123190640 | 123185664:123185730 | ENSG00000128609.10 | ENST00000471770.1,ENST00000355749.2,ENST00000378795.4,ENST00000467117.1 |
| exon_skip_479340 | 7 | 123185664:123185730:123186711:123186871:123190523:123190640 | 123186711:123186871 | ENSG00000128609.10 | ENST00000466896.1 |
| exon_skip_479342 | 7 | 123185664:123185730:123190523:123190640:123197457:123197502 | 123190523:123190640 | ENSG00000128609.10 | ENST00000471770.1,ENST00000355749.2,ENST00000378795.4,ENST00000470123.1 |
| exon_skip_479343 | 7 | 123190523:123190640:123191421:123191630:123197457:123197502 | 123191421:123191630 | ENSG00000128609.10 | ENST00000467117.1,ENST00000491033.1 |
| exon_skip_479344 | 7 | 123190523:123190640:123197457:123197502:123197828:123197855 | 123197457:123197502 | ENSG00000128609.10 | ENST00000355749.2,ENST00000466896.1,ENST00000492549.1 |
| 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 NDUFA5 |
| 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 |
| ENST00000355749 | 123185664 | 123185730 | In-frame |
| ENST00000355749 | 123190523 | 123190640 | In-frame |
| ENST00000355749 | 123197457 | 123197502 | 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 |
| ENST00000355749 | 123185664 | 123185730 | In-frame |
| ENST00000355749 | 123190523 | 123190640 | In-frame |
| ENST00000355749 | 123197457 | 123197502 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NDUFA5 |
| 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 |
| ENST00000355749 | 1918 | 116 | 123197457 | 123197502 | 482 | 526 | 7 | 22 |
| ENST00000355749 | 1918 | 116 | 123190523 | 123190640 | 527 | 643 | 22 | 61 |
| ENST00000355749 | 1918 | 116 | 123185664 | 123185730 | 644 | 709 | 61 | 83 |
| 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 |
| ENST00000355749 | 1918 | 116 | 123197457 | 123197502 | 482 | 526 | 7 | 22 |
| ENST00000355749 | 1918 | 116 | 123190523 | 123190640 | 527 | 643 | 22 | 61 |
| ENST00000355749 | 1918 | 116 | 123185664 | 123185730 | 644 | 709 | 61 | 83 |
| 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 |
| Q16718 | 7 | 22 | 1 | 7 | Alternative sequence | ID=VSP_055164;Note=In isoform 2. MAGVLKK->MPYRVGQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q16718 | 7 | 22 | 11 | 13 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 7 | 22 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 7 | 22 | 20 | 35 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 22 | 61 | 20 | 35 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 43 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 30 | 30 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q16718 | 22 | 61 | 46 | 46 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CPP6 |
| Q16718 | 22 | 61 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q16718 | 22 | 61 | 52 | 52 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q16718 | 61 | 83 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 61 | 83 | 43 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 65 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 80 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 77 | 79 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| 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 |
| Q16718 | 7 | 22 | 1 | 7 | Alternative sequence | ID=VSP_055164;Note=In isoform 2. MAGVLKK->MPYRVGQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q16718 | 7 | 22 | 11 | 13 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 7 | 22 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 7 | 22 | 20 | 35 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 22 | 61 | 20 | 35 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 43 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 22 | 61 | 30 | 30 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q16718 | 22 | 61 | 46 | 46 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CPP6 |
| Q16718 | 22 | 61 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q16718 | 22 | 61 | 52 | 52 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q16718 | 61 | 83 | 2 | 116 | Chain | ID=PRO_0000118632;Note=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 |
| Q16718 | 61 | 83 | 43 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 65 | 71 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 80 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| Q16718 | 61 | 83 | 77 | 79 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
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SNVs in the skipped exons for NDUFA5 |
| - 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-G3-A3CJ-01 | exon_skip_479338 | 123185665 | 123185730 | 123185713 | 123185713 | Frame_Shift_Del | T | - | p.K67fs |
| COAD | TCGA-CK-5916-01 | exon_skip_479342 | 123190524 | 123190640 | 123190585 | 123190585 | Frame_Shift_Del | T | - | p.N41fs |
| HNSC | TCGA-CV-6952-01 | exon_skip_479338 | 123185665 | 123185730 | 123185711 | 123185711 | Nonsense_Mutation | A | C | p.L68* |
| - 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 |
| SNU81_LARGE_INTESTINE | 123190524 | 123190640 | 123190573 | 123190573 | Missense_Mutation | C | A | p.R45I |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123190524 | 123190640 | 123190615 | 123190615 | Missense_Mutation | A | C | p.I31S |
| RT112_URINARY_TRACT | 123197458 | 123197502 | 123197466 | 123197466 | Missense_Mutation | G | T | p.P20T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFA5 |
| 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 NDUFA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFA5 |
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RelatedDrugs for NDUFA5 |
| 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 NDUFA5 |
| 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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