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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 SDHC |
 Gene summary |
| Gene information | Gene symbol | SDHC | Gene ID | 6391 |
| Gene name | succinate dehydrogenase complex subunit C | |
| Synonyms | CYB560|CYBL|PGL3|QPS1|SDH3 | |
| Cytomap | 1q23.3 | |
| Type of gene | protein-coding | |
| Description | succinate dehydrogenase cytochrome b560 subunit, mitochondrialcytochrome B large subunit of complex IIintegral membrane protein CII-3blarge subunit of cytochrome bsuccinate dehydrgenase cytochrome bsuccinate dehydrogenase 3, integral membrane subunit | |
| 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 |
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Gene structures and expression levels for SDHC |
| 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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ENSG00000143252
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 SDHC |
| 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_106405 | chr1 | 161314391:161314425:161323614:161323670:161340594:161340654 | 161323614:161323670 |
| exon_skip_134064 | chr1 | 161314391:161314425:161340594:161340655:161356677:161356840 | 161340594:161340655 |
| exon_skip_176170 | chr1 | 161323614:161323670:161328396:161328497:161340594:161340655 | 161328396:161328497 |
| exon_skip_188308 | chr1 | 161328396:161328497:161339562:161339588:161340594:161340655 | 161339562:161339588 |
| exon_skip_209427 | chr1 | 161323614:161323670:161340594:161340655:161356677:161356840 | 161340594:161340655 |
| exon_skip_211889 | chr1 | 161340594:161340655:161356677:161356840:161362329:161362433 | 161356677:161356840 |
| exon_skip_219217 | chr1 | 161340597:161340655:161356677:161356840:161362329:161362433 | 161356677:161356840 |
| exon_skip_238559 | chr1 | 161314391:161314425:161323614:161323670:161328396:161328495 | 161323614:161323670 |
| exon_skip_24234 | chr1 | 161323616:161323670:161328396:161328497:161339562:161339588 | 161328396:161328497 |
| exon_skip_247149 | chr1 | 161314391:161314425:161323614:161323670:161340594:161340655 | 161323614:161323670 |
| exon_skip_255861 | chr1 | 161326651:161326768:161328396:161328497:161340594:161340655 | 161328396:161328497 |
| exon_skip_259907 | chr1 | 161323616:161323670:161328396:161328497:161340594:161340655 | 161328396:161328497 |
| exon_skip_36597 | chr1 | 161340594:161340655:161356677:161356840:161362329:161362346 | 161356677:161356840 |
| exon_skip_48012 | chr1 | 161323614:161323670:161328396:161328497:161339562:161339588 | 161328396:161328497 |
| exon_skip_6682 | chr1 | 161323616:161323670:161326651:161326768:161328396:161328495 | 161326651:161326768 |
| exon_skip_82444 | chr1 | 161328396:161328497:161340594:161340655:161356677:161356840 | 161340594:161340655 |
| exon_skip_84740 | chr1 | 161323614:161323670:161326651:161326768:161328396:161328495 | 161326651:161326768 |
| 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 SDHC |
| 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 |
| ENST00000367975 | 161356677 | 161356840 | Frame-shift |
| ENST00000367975 | 161328396 | 161328497 | 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 |
| ENST00000367975 | 161356677 | 161356840 | Frame-shift |
| ENST00000367975 | 161328396 | 161328497 | 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 |
| ENST00000367975 | 161340594 | 161340655 | Frame-shift |
| ENST00000367975 | 161356677 | 161356840 | Frame-shift |
| ENST00000367975 | 161328396 | 161328497 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SDHC |
p-ENSG00000143252_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 |
| ENST00000367975 | 13583 | 169 | 161328396 | 161328497 | 228 | 328 | 26 | 59 |
| 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 |
| ENST00000367975 | 13583 | 169 | 161328396 | 161328497 | 228 | 328 | 26 | 59 |
| 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 |
| ENST00000367975 | 13583 | 169 | 161328396 | 161328497 | 228 | 328 | 26 | 59 |
| 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 |
| Q99643 | 26 | 59 | 7 | 59 | Alternative sequence | ID=VSP_041381;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q99643 | 26 | 59 | 27 | 60 | Alternative sequence | ID=VSP_041382;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9851882,ECO:0000303|Ref.5;Dbxref=PMID:9851882 |
| Q99643 | 26 | 59 | 30 | 169 | Chain | ID=PRO_0000003634;Note=Succinate dehydrogenase cytochrome b560 subunit%2C mitochondrial |
| Q99643 | 26 | 59 | 30 | 62 | Topological domain | Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q99643 | 26 | 59 | 1 | 29 | Transit peptide | Note=Mitochondrion;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q99643 | 26 | 59 | 7 | 59 | Alternative sequence | ID=VSP_041381;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q99643 | 26 | 59 | 27 | 60 | Alternative sequence | ID=VSP_041382;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9851882,ECO:0000303|Ref.5;Dbxref=PMID:9851882 |
| Q99643 | 26 | 59 | 30 | 169 | Chain | ID=PRO_0000003634;Note=Succinate dehydrogenase cytochrome b560 subunit%2C mitochondrial |
| Q99643 | 26 | 59 | 30 | 62 | Topological domain | Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q99643 | 26 | 59 | 1 | 29 | Transit peptide | Note=Mitochondrion;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q99643 | 26 | 59 | 7 | 59 | Alternative sequence | ID=VSP_041381;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| Q99643 | 26 | 59 | 27 | 60 | Alternative sequence | ID=VSP_041382;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:9851882,ECO:0000303|Ref.5;Dbxref=PMID:9851882 |
| Q99643 | 26 | 59 | 30 | 169 | Chain | ID=PRO_0000003634;Note=Succinate dehydrogenase cytochrome b560 subunit%2C mitochondrial |
| Q99643 | 26 | 59 | 30 | 62 | Topological domain | Note=Mitochondrial matrix;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q99643 | 26 | 59 | 1 | 29 | 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 SDHC |
| 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 SDHC |
| - 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 SDHC |
| 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 SDHC |
| 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 SDHC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| HCC | RBM5 | exon_skip_176170 | 4.912854e-01 | 5.414973e-18 |
| HCC | TRA2A | exon_skip_176170 | 4.373192e-01 | 3.521659e-14 |
| HCC | RBM45 | exon_skip_176170 | 4.236336e-01 | 2.577516e-13 |
| HCC | PTBP1 | exon_skip_176170 | 4.882573e-01 | 9.243418e-18 |
| IFG | A1CF | exon_skip_176170 | -4.608446e-01 | 1.358471e-02 |
| IFG | HNRNPDL | exon_skip_176170 | 4.101194e-01 | 3.019049e-02 |
| PCC | PTBP1 | exon_skip_176170 | 4.960859e-01 | 9.322675e-15 |
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RelatedDrugs for SDHC |
| 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 SDHC |
| 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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