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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 NDUFS7 |
 Gene summary |
| Gene information | Gene symbol | NDUFS7 | Gene ID | 374291 |
| Gene name | NADH:ubiquinone oxidoreductase core subunit S7 | |
| Synonyms | CI-20|CI-20KD|MC1DN3|MY017|PSST | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)NADH-coenzyme Q reductaseNADH-ubiquinone oxidoreductase 20 kDa subunitNADH:ubiquinone oxidoreductase P | |
| Modification date | 20200320 | |
| 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 |
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Gene structures and expression levels for NDUFS7 |
| 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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ENSG00000115286
| 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 |
| CB | DOWN | ENST00000539480.5 | NDUFS7-210:protein_coding:NDUFS7 | 1.005762e+02 | -1.737052e+00 | 2.941218e-12 | 3.660670e-10 |
| CB | UP | ENST00000539882.1 | NDUFS7-211:retained_intron:NDUFS7 | 5.323199e+00 | 9.979061e-01 | 1.821052e-05 | 1.750333e-04 |
| CB | UP | ENST00000538662.5 | NDUFS7-208:retained_intron:NDUFS7 | 7.542603e+01 | 8.218168e-01 | 1.931320e-03 | 8.958136e-03 |
| TC | DOWN | ENST00000535382.1 | NDUFS7-206:retained_intron:NDUFS7 | 6.549172e+01 | -9.184173e-01 | 1.090639e-04 | 1.730579e-03 |
| 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 NDUFS7 |
| 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_140718 | chr19 | 1388525:1388593:1388743:1388938:1390871:1391050 | 1388743:1388938 |
| exon_skip_179883 | chr19 | 1387811:1387847:1388525:1388593:1388833:1388938 | 1388525:1388593 |
| exon_skip_209483 | chr19 | 1383922:1383942:1386518:1386639:1387811:1387847 | 1386518:1386639 |
| exon_skip_26354 | chr19 | 1388525:1388593:1388833:1388938:1390871:1391050 | 1388833:1388938 |
| exon_skip_272746 | chr19 | 1388833:1388938:1390871:1391050:1391119:1391165 | 1390871:1391050 |
| exon_skip_286762 | chr19 | 1384051:1384156:1387811:1387847:1388525:1388593 | 1387811:1387847 |
| exon_skip_7372 | chr19 | 1388025:1388304:1388525:1388593:1388833:1388938 | 1388525:1388593 |
| exon_skip_95736 | chr19 | 1387811:1387847:1388525:1388938:1390871:1391050 | 1388525:1388938 |
| 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 NDUFS7 |
| 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 |
| ENST00000233627 | 1388833 | 1388938 | Frame-shift |
| ENST00000233627 | 1390871 | 1391050 | In-frame |
| 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 |
| ENST00000233627 | 1388833 | 1388938 | Frame-shift |
| ENST00000233627 | 1388525 | 1388593 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NDUFS7 |
p-ENSG00000115286_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 |
| ENST00000233627 | 1056 | 213 | 1390871 | 1391050 | 526 | 704 | 76 | 136 |
| 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 |
| ENST00000233627 | 1056 | 213 | 1388525 | 1388593 | 351 | 418 | 18 | 40 |
| 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 |
| O75251 | 76 | 136 | 119 | 121 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 39 | 213 | Chain | ID=PRO_0000020027;Note=NADH dehydrogenase [ubiquinone] iron-sulfur protein 7%2C mitochondrial |
| O75251 | 76 | 136 | 60 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 90 | 96 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 103 | 106 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 131 | 140 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 88 | 88 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75251 | 76 | 136 | 89 | 89 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75251 | 76 | 136 | 111 | 111 | Modified residue | Note=Hydroxyarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42026 |
| O75251 | 76 | 136 | 122 | 122 | Natural variant | ID=VAR_008848;Note=In MT-C1D. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10330338,ECO:0000269|PubMed:10360771;Dbxref=dbSNP:rs104894705,PMID:10330338,PMID:10360771 |
| O75251 | 76 | 136 | 99 | 101 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 114 | 116 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| O75251 | 76 | 136 | 128 | 130 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| 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 |
| O75251 | 18 | 40 | 39 | 213 | Chain | ID=PRO_0000020027;Note=NADH dehydrogenase [ubiquinone] iron-sulfur protein 7%2C mitochondrial |
| O75251 | 18 | 40 | 23 | 23 | Natural variant | ID=VAR_014482;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1142530,PMID:15489334 |
| O75251 | 18 | 40 | 1 | 38 | Transit peptide | Note=Mitochondrion;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NDUFS7 |
| 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 NDUFS7 |
| - 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 NDUFS7 |
| 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 NDUFS7 |
| 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 NDUFS7 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NDUFS7 |
| 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 NDUFS7 |
| 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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