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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 NDUFC1 |
 Gene summary |
| Gene information | Gene symbol | NDUFC1 | Gene ID | 4717 |
| Gene name | NADH:ubiquinone oxidoreductase subunit C1 | |
| Synonyms | KFYI | |
| Cytomap | 4q31.1 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrialCI-KFYINADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDaNADH-ubiquinone oxidoreductase KFYI subunitcomplex I KFYI subunitcomplex I-KFYI | |
| 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 NDUFC1 |
| 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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ENSG00000109390
| 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 | UP | ENST00000503997.5 | NDUFC1-205:nonsense_mediated_decay:NDUFC1 | 4.082312e+01 | 1.186976e+00 | 2.102388e-10 | 1.182555e-08 |
| 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 NDUFC1 |
| 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_104613 | chr4 | 139289953:139290092:139292530:139292609:139295043:139295146 | 139292530:139292609 |
| exon_skip_126485 | chr4 | 139295118:139295146:139295732:139295960:139300602:139300839 | 139295732:139295960 |
| exon_skip_137510 | chr4 | 139295732:139295960:139297385:139297443:139302416:139302477 | 139297385:139297443 |
| exon_skip_143198 | chr4 | 139295118:139295146:139295732:139295960:139300602:139300704 | 139295732:139295960 |
| exon_skip_168898 | chr4 | 139295732:139295960:139296332:139296367:139302416:139302477 | 139296332:139296367 |
| exon_skip_212193 | chr4 | 139292530:139292609:139295043:139295146:139295732:139295815 | 139295043:139295146 |
| exon_skip_226196 | chr4 | 139295732:139295960:139296332:139296367:139302416:139302551 | 139296332:139296367 |
| exon_skip_231367 | chr4 | 139290055:139290092:139292530:139292609:139295043:139295140 | 139292530:139292609 |
| exon_skip_255991 | chr4 | 139295732:139295960:139297385:139297443:139300602:139300839 | 139297385:139297443 |
| exon_skip_256181 | chr4 | 139295118:139295146:139295732:139295960:139302416:139302477 | 139295732:139295960 |
| exon_skip_286390 | chr4 | 139295732:139295960:139297385:139297443:139300602:139301210 | 139297385:139297443 |
| exon_skip_29131 | chr4 | 139295732:139295960:139297385:139297443:139300602:139300704 | 139297385:139297443 |
| exon_skip_46924 | chr4 | 139295118:139295146:139295732:139295960:139300602:139301210 | 139295732:139295960 |
| exon_skip_67599 | chr4 | 139289953:139290092:139292530:139292609:139295043:139295105 | 139292530:139292609 |
| exon_skip_86385 | chr4 | 139289953:139290092:139292530:139292609:139295043:139295140 | 139292530:139292609 |
| exon_skip_91385 | chr4 | 139295732:139295960:139296332:139296367:139300964:139301233 | 139296332:139296367 |
| 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 NDUFC1 |
| 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 |
| ENST00000539002 | 139295732 | 139295960 | 3UTR-3CDS |
| ENST00000539387 | 139295732 | 139295960 | 3UTR-3CDS |
| ENST00000394228 | 139296332 | 139296367 | 3UTR-3UTR |
| ENST00000394223 | 139297385 | 139297443 | 3UTR-3UTR |
| ENST00000544855 | 139297385 | 139297443 | 3UTR-3UTR |
| ENST00000394223 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000394228 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000505036 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000539002 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000539387 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000544855 | 139292530 | 139292609 | 5CDS-5UTR |
| 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 |
| ENST00000539002 | 139295732 | 139295960 | 3UTR-3CDS |
| ENST00000539387 | 139295732 | 139295960 | 3UTR-3CDS |
| ENST00000394223 | 139297385 | 139297443 | 3UTR-3UTR |
| ENST00000544855 | 139297385 | 139297443 | 3UTR-3UTR |
| ENST00000394223 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000394228 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000505036 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000539002 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000539387 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000544855 | 139292530 | 139292609 | 5CDS-5UTR |
| ENST00000394223 | 139295043 | 139295146 | Frame-shift |
| ENST00000394228 | 139295043 | 139295146 | Frame-shift |
| ENST00000505036 | 139295043 | 139295146 | Frame-shift |
| ENST00000539002 | 139295043 | 139295146 | Frame-shift |
| ENST00000539387 | 139295043 | 139295146 | Frame-shift |
| ENST00000544855 | 139295043 | 139295146 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NDUFC1 |
p-ENSG00000109390_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 NDUFC1 |
| 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 |
| Mayo | ENST00000544855 | 139297385 | 139297443 | hsa-miR-3145-5p | chr4:139297413-139297420 | 8mer-1a | chr4:139297404-139297427 | 166.00 | -33.34 |
| ROSMAP | ENST00000394228 | 139296332 | 139296367 | hsa-miR-4316 | chr4:139296357-139296364 | 8mer-1a | chr4:139296348-139296364 | 145.00 | -17.95 |
| ROSMAP | ENST00000394228 | 139296332 | 139296367 | hsa-miR-3188 | chr4:139296355-139296362 | 8mer-1a | chr4:139296341-139296362 | 147.00 | -20.00 |
| ROSMAP | ENST00000544855 | 139297385 | 139297443 | hsa-miR-3145-5p | chr4:139297413-139297420 | 8mer-1a | chr4:139297404-139297427 | 166.00 | -33.34 |
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SNVs in the skipped exons for NDUFC1 |
| - 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 NDUFC1 |
| 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 NDUFC1 |
| 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 NDUFC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM45 | exon_skip_46924 | 4.071629e-01 | 1.002729e-07 |
| CB | RBM4 | exon_skip_46924 | -4.016836e-01 | 1.539264e-07 |
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RelatedDrugs for NDUFC1 |
| 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 NDUFC1 |
| 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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