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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 NDUFA4 |
Gene summary |
Gene information | Gene symbol | NDUFA4 | Gene ID | 4697 |
Gene name | NDUFA4, mitochondrial complex associated | |
Synonyms | CI-9k|CI-MLRQ|MLRQ | |
Cytomap | 7p21.3 | |
Type of gene | protein-coding | |
Description | cytochrome c oxidase subunit NDUFA4Complex I 9kDa subunitNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDaNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4NADH-ubiquinone oxidoreductase MLRQ subunitcomplex I-MLRQ | |
Modification date | 20180523 | |
UniProtAcc | O00483 | |
Context | PubMed: NDUFA4 [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 NDUFA4 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 NDUFA4 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NDUFA4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_473783 | 7 | 10973291:10973319:10977716:10977774:10978434:10978523 | 10977716:10977774 | ENSG00000189043.5 | ENST00000339600.5,ENST00000470761.1 |
exon_skip_473791 | 7 | 10977730:10977774:10978434:10978523:10979642:10979705 | 10978434:10978523 | ENSG00000189043.5 | ENST00000486007.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NDUFA4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_473783 | 7 | 10973291:10973319:10977716:10977774:10978434:10978523 | 10977716:10977774 | ENSG00000189043.5 | ENST00000339600.5,ENST00000470761.1 |
exon_skip_473791 | 7 | 10977730:10977774:10978434:10978523:10979642:10979705 | 10978434:10978523 | ENSG00000189043.5 | ENST00000486007.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NDUFA4 |
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 |
ENST00000339600 | 10977716 | 10977774 | Frame-shift |
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 |
ENST00000339600 | 10977716 | 10977774 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NDUFA4 |
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 |
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SNVs in the skipped exons for NDUFA4 |
- 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-AR-A24S-01 | exon_skip_473791 | 10978435 | 10978523 | 10978513 | 10978514 | Frame_Shift_Ins | - | G | p.L18fs |
COAD | TCGA-AD-6889-01 | exon_skip_473783 | 10977717 | 10977774 | 10977771 | 10977771 | Nonsense_Mutation | C | T | p.W45X |
- 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 |
KS1_CENTRAL_NERVOUS_SYSTEM | 10978435 | 10978523 | 10978439 | 10978444 | In_Frame_Del | CATCTG | - | p.41_43PDV>L |
TOV21G_OVARY | 10977717 | 10977774 | 10977758 | 10977758 | Missense_Mutation | G | A | p.P50S |
PLCPRF5_LIVER | 10977717 | 10977774 | 10977771 | 10977771 | Missense_Mutation | C | G | p.W45C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFA4 |
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 NDUFA4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFA4 |
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RelatedDrugs for NDUFA4 |
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 NDUFA4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |