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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 UQCRC1 |
 Gene summary |
| Gene information | Gene symbol | UQCRC1 | Gene ID | 7384 |
| Gene name | ubiquinol-cytochrome c reductase core protein 1 | |
| Synonyms | D3S3191|QCR1|UQCR1 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | cytochrome b-c1 complex subunit 1, mitochondrialcomplex III subunit 1core protein Iubiquinol-cytochrome c reductase core protein Iubiquinol-cytochrome-c reductase complex core protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 26943237(Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population) |
| 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 UQCRC1 |
| 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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ENSG00000010256
| 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 | ENST00000471189.5 | UQCRC1-207:retained_intron:UQCRC1 | 1.640760e+02 | -1.310865e+00 | 2.169554e-18 | 4.617818e-15 |
| TC | DOWN | ENST00000471189.5 | UQCRC1-207:retained_intron:UQCRC1 | 1.210253e+02 | -2.361249e+00 | 1.036423e-24 | 6.198528e-21 |
| 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 UQCRC1 |
| 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_188108 | chr3 | 48604263:48604780:48605770:48605856:48609162:48609302 | 48605770:48605856 |
| exon_skip_208532 | chr3 | 48600118:48600151:48600482:48600567:48600680:48600840 | 48600482:48600567 |
| exon_skip_223333 | chr3 | 48600118:48600151:48600482:48600567:48600680:48600798 | 48600482:48600567 |
| exon_skip_24479 | chr3 | 48605770:48605856:48609162:48609302:48609552:48609631 | 48609162:48609302 |
| exon_skip_264232 | chr3 | 48604684:48604780:48605770:48605856:48609162:48609302 | 48605770:48605856 |
| exon_skip_38590 | chr3 | 48604651:48604780:48605770:48605856:48609162:48609302 | 48605770:48605856 |
| exon_skip_5561 | chr3 | 48600118:48600151:48600482:48600567:48600680:48600815 | 48600482:48600567 |
| 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 UQCRC1 |
| 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 |
| ENST00000203407 | 48600482 | 48600567 | Frame-shift |
| ENST00000203407 | 48605770 | 48605856 | In-frame |
| ENST00000203407 | 48609162 | 48609302 | 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 |
| ENST00000203407 | 48600482 | 48600567 | Frame-shift |
| ENST00000203407 | 48605770 | 48605856 | In-frame |
| 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 |
| ENST00000203407 | 48600482 | 48600567 | Frame-shift |
| ENST00000203407 | 48605770 | 48605856 | In-frame |
| ENST00000203407 | 48609162 | 48609302 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UQCRC1 |
p-ENSG00000010256_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 |
| ENST00000203407 | 2002 | 480 | 48609162 | 48609302 | 487 | 626 | 23 | 69 |
| ENST00000203407 | 2002 | 480 | 48605770 | 48605856 | 628 | 713 | 70 | 98 |
| 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 |
| ENST00000203407 | 2002 | 480 | 48605770 | 48605856 | 628 | 713 | 70 | 98 |
| 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 |
| ENST00000203407 | 2002 | 480 | 48609162 | 48609302 | 487 | 626 | 23 | 69 |
| ENST00000203407 | 2002 | 480 | 48605770 | 48605856 | 628 | 713 | 70 | 98 |
| 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 |
| P31930 | 23 | 69 | 67 | 69 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 23 | 69 | 35 | 480 | Chain | ID=PRO_0000026786;Note=Cytochrome b-c1 complex subunit 1%2C mitochondrial |
| P31930 | 23 | 69 | 38 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 23 | 69 | 1 | 34 | Transit peptide | Note=Mitochondrion;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:25944712,ECO:0000269|PubMed:8313870;Dbxref=PMID:25944712,PMID:8313870 |
| P31930 | 70 | 98 | 96 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 35 | 480 | Chain | ID=PRO_0000026786;Note=Cytochrome b-c1 complex subunit 1%2C mitochondrial |
| P31930 | 70 | 98 | 84 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 89 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| 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 |
| P31930 | 70 | 98 | 96 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 35 | 480 | Chain | ID=PRO_0000026786;Note=Cytochrome b-c1 complex subunit 1%2C mitochondrial |
| P31930 | 70 | 98 | 84 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 89 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| 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 |
| P31930 | 23 | 69 | 67 | 69 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 23 | 69 | 35 | 480 | Chain | ID=PRO_0000026786;Note=Cytochrome b-c1 complex subunit 1%2C mitochondrial |
| P31930 | 23 | 69 | 38 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 23 | 69 | 1 | 34 | Transit peptide | Note=Mitochondrion;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:25944712,ECO:0000269|PubMed:8313870;Dbxref=PMID:25944712,PMID:8313870 |
| P31930 | 70 | 98 | 96 | 99 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 35 | 480 | Chain | ID=PRO_0000026786;Note=Cytochrome b-c1 complex subunit 1%2C mitochondrial |
| P31930 | 70 | 98 | 84 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
| P31930 | 70 | 98 | 89 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTE |
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3'-UTR located exon skipping events that lost miRNA binding sites in UQCRC1 |
| 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 UQCRC1 |
| - 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 UQCRC1 |
| 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 UQCRC1 |
| 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 UQCRC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for UQCRC1 |
| 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 UQCRC1 |
| 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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