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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NDUFS1 |
 Gene summary |
| Gene information | Gene symbol | NDUFS1 | Gene ID | 4719 |
| Gene name | NADH:ubiquinone oxidoreductase core subunit S1 | |
| Synonyms | CI-75Kd|CI-75k|MC1DN5|PRO1304 | |
| Cytomap | 2q33.3 | |
| Type of gene | protein-coding | |
| Description | NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)complex I 75kDa subunitcomplex I, mitochondrial respiratory chain, 75-kD subunitmitochondrial NADH-ubiquinone | |
| 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 |
| NDUFS1 | GO:0008637 | apoptotic mitochondrial changes | 15186778 |
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Gene structures and expression levels for NDUFS1 |
| 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. |
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ENSG00000023228
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | DOWN | ENST00000456284.5 | NDUFS1-208:nonsense_mediated_decay:NDUFS1 | 1.509337e+01 | -1.029440e+00 | 9.389235e-04 | 3.711555e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NDUFS1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_103088 | chr2 | 206149020:206149096:206149818:206149925:206152419:206152489 | 206149818:206149925 |
| exon_skip_105125 | chr2 | 206141941:206142069:206142686:206142831:206144018:206144132 | 206142686:206142831 |
| exon_skip_111024 | chr2 | 206149020:206149096:206149818:206149925:206153618:206153682 | 206149818:206149925 |
| exon_skip_11384 | chr2 | 206149020:206149096:206149780:206149925:206152419:206152510 | 206149780:206149925 |
| exon_skip_127096 | chr2 | 206149020:206149096:206149780:206149925:206152419:206152489 | 206149780:206149925 |
| exon_skip_136716 | chr2 | 206149020:206149096:206152419:206152510:206153618:206153682 | 206152419:206152510 |
| exon_skip_136981 | chr2 | 206142686:206142831:206144018:206144132:206144892:206145022 | 206144018:206144132 |
| exon_skip_139799 | chr2 | 206138485:206138614:206141941:206142069:206142686:206142831 | 206141941:206142069 |
| exon_skip_14504 | chr2 | 206127797:206127972:206130088:206130242:206132945:206132969 | 206130088:206130242 |
| exon_skip_156615 | chr2 | 206152419:206152510:206153618:206153682:206159341:206159425 | 206153618:206153682 |
| exon_skip_17279 | chr2 | 206149818:206149925:206152419:206152510:206153618:206153682 | 206152419:206152510 |
| exon_skip_175195 | chr2 | 206149020:206149096:206149780:206149925:206152419:206152509 | 206149780:206149925 |
| exon_skip_200814 | chr2 | 206130088:206130242:206132945:206133105:206138485:206138614 | 206132945:206133105 |
| exon_skip_246830 | chr2 | 206138485:206138614:206141941:206142069:206142686:206142825 | 206141941:206142069 |
| exon_skip_251413 | chr2 | 206149818:206149925:206153618:206153682:206159341:206159425 | 206153618:206153682 |
| exon_skip_266968 | chr2 | 206142686:206142831:206144018:206144132:206144892:206145026 | 206144018:206144132 |
| exon_skip_286386 | chr2 | 206142686:206142831:206144018:206144132:206144892:206145018 | 206144018:206144132 |
| exon_skip_29168 | chr2 | 206149818:206149925:206152419:206152510:206153618:206153633 | 206152419:206152510 |
| exon_skip_294030 | chr2 | 206147782:206147834:206149020:206149096:206152419:206152510 | 206149020:206149096 |
| exon_skip_38344 | chr2 | 206132945:206133105:206138485:206138614:206141941:206142069 | 206138485:206138614 |
| exon_skip_39154 | chr2 | 206149020:206149096:206149818:206149925:206152419:206152509 | 206149818:206149925 |
| exon_skip_57833 | chr2 | 206126539:206126611:206126710:206126844:206127797:206127972 | 206126710:206126844 |
| exon_skip_89961 | chr2 | 206126710:206126844:206127797:206127972:206130088:206130242 | 206127797:206127972 |
| exon_skip_98288 | chr2 | 206149020:206149096:206149818:206149925:206152419:206152510 | 206149818:206149925 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for NDUFS1 |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for NDUFS1 |
p-ENSG00000023228_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NDUFS1 |
| 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 |
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SNVs in the skipped exons for NDUFS1 |
| - 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 |
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AD stage-associated exon skippint events for NDUFS1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFS1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NDUFS1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ELAVL1 | exon_skip_29168 | -4.830015e-01 | 5.057790e-10 |
| CB | FUBP1 | exon_skip_29168 | -4.010525e-01 | 4.387388e-07 |
| CB | KHSRP | exon_skip_29168 | -4.764947e-01 | 9.260850e-10 |
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RelatedDrugs for NDUFS1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NDUFS1 |
| 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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