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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 CS |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CS | GO:0005975 | carbohydrate metabolic process | 9543345 |
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Gene structures and expression levels for CS |
| 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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ENSG00000062485
| 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 |
| PCC | DOWN | ENST00000551253.5 | CS-225:protein_coding:CS | 2.293905e+00 | -1.036640e+00 | 1.475709e-04 | 7.701601e-03 |
| PG | UP | ENST00000549143.5 | CS-215:nonsense_mediated_decay:CS | 1.575022e+01 | 4.693384e+00 | 3.467705e-03 | 3.533117e-02 |
| CB | DOWN | ENST00000525435.1 | CCS-202:retained_intron:CCS | 1.502669e+02 | -8.792831e-01 | 7.942407e-11 | 5.205059e-09 |
| CB | DOWN | ENST00000263776.9 | ACCS-201:protein_coding:ACCS | 3.853938e+01 | -8.237753e-01 | 1.637772e-08 | 4.588174e-07 |
| CB | DOWN | ENST00000543665.2 | AACS-211:retained_intron:AACS | 1.590354e+02 | -8.133400e-01 | 4.831533e-07 | 8.079917e-06 |
| CB | DOWN | ENST00000423156.2 | SACS-203:protein_coding:SACS | 1.294285e+02 | -1.447000e+00 | 9.894448e-07 | 1.483097e-05 |
| CB | UP | ENST00000503150.1 | SEPSECS-203:nonsense_mediated_decay:SEPSECS | 8.097977e-01 | 8.149780e-01 | 1.479454e-02 | 4.772102e-02 |
| TC | DOWN | ENST00000525435.1 | CCS-202:retained_intron:CCS | 7.774633e+01 | -8.225527e-01 | 6.531434e-08 | 4.288487e-06 |
| TC | DOWN | ENST00000534035.1 | ACCS-213:retained_intron:ACCS | 1.274079e+00 | -2.048547e+00 | 4.142509e-03 | 2.906094e-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 CS |
| 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_130796 | chr12 | 56276164:56276195:56282420:56282608:56282860:56282907 | 56282420:56282608 |
| exon_skip_171365 | chr12 | 56283840:56283857:56285145:56285244:56285916:56286023 | 56285145:56285244 |
| exon_skip_214069 | chr12 | 56286595:56286645:56291220:56291306:56300160:56300330 | 56291220:56291306 |
| exon_skip_230352 | chr12 | 56275996:56276143:56282420:56282608:56282860:56282907 | 56282420:56282608 |
| exon_skip_246278 | chr12 | 56282860:56282991:56283792:56283857:56285916:56286023 | 56283792:56283857 |
| exon_skip_246650 | chr12 | 56283792:56283857:56285145:56285244:56285916:56286023 | 56285145:56285244 |
| exon_skip_291322 | chr12 | 56283792:56283857:56285916:56286023:56286595:56286645 | 56285916:56286023 |
| exon_skip_54343 | chr12 | 56282420:56282608:56282860:56282991:56285916:56286023 | 56282860:56282991 |
| exon_skip_54632 | chr12 | 56286595:56286645:56298609:56298691:56300160:56300316 | 56298609:56298691 |
| exon_skip_55923 | chr12 | 56276148:56276195:56282420:56282608:56282860:56282991 | 56282420:56282608 |
| exon_skip_61071 | chr12 | 56276164:56276195:56282860:56282991:56283792:56283821 | 56282860:56282991 |
| exon_skip_67684 | chr12 | 56285916:56286645:56291631:56291793:56300160:56300391 | 56291631:56291793 |
| 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 CS |
| 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 |
| ENST00000351328 | 56282420 | 56282608 | In-frame |
| ENST00000351328 | 56283792 | 56283857 | In-frame |
| ENST00000351328 | 56285916 | 56286023 | 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 |
| ENST00000351328 | 56282420 | 56282608 | In-frame |
| ENST00000351328 | 56283792 | 56283857 | 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 |
| ENST00000351328 | 56282420 | 56282608 | In-frame |
| ENST00000351328 | 56283792 | 56283857 | In-frame |
| ENST00000351328 | 56285916 | 56286023 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CS |
p-ENSG00000062485_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 |
| ENST00000351328 | 2992 | 466 | 56285916 | 56286023 | 285 | 391 | 31 | 66 |
| ENST00000351328 | 2992 | 466 | 56283792 | 56283857 | 393 | 457 | 67 | 88 |
| ENST00000351328 | 2992 | 466 | 56282420 | 56282608 | 591 | 778 | 133 | 195 |
| 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 |
| ENST00000351328 | 2992 | 466 | 56283792 | 56283857 | 393 | 457 | 67 | 88 |
| ENST00000351328 | 2992 | 466 | 56282420 | 56282608 | 591 | 778 | 133 | 195 |
| 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 |
| ENST00000351328 | 2992 | 466 | 56285916 | 56286023 | 285 | 391 | 31 | 66 |
| ENST00000351328 | 2992 | 466 | 56283792 | 56283857 | 393 | 457 | 67 | 88 |
| ENST00000351328 | 2992 | 466 | 56282420 | 56282608 | 591 | 778 | 133 | 195 |
| 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 |
| O75390 | 31 | 66 | 59 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 31 | 66 | 33 | 55 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 65 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 57 | 57 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CZU6 |
| O75390 | 31 | 66 | 55 | 55 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75390 | 67 | 88 | 76 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 82 | 86 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 67 | 88 | 65 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 70 | 74 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 87 | 89 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 133 | 195 | 131 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 149 | 157 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 164 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 180 | 186 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 191 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 194 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 193 | 193 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CZU6 |
| O75390 | 133 | 195 | 183 | 183 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75390 | 133 | 195 | 187 | 187 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| O75390 | 67 | 88 | 76 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 82 | 86 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 67 | 88 | 65 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 70 | 74 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 87 | 89 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 133 | 195 | 131 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 149 | 157 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 164 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 180 | 186 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 191 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 194 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 193 | 193 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CZU6 |
| O75390 | 133 | 195 | 183 | 183 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75390 | 133 | 195 | 187 | 187 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| O75390 | 31 | 66 | 59 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 31 | 66 | 33 | 55 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 65 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 31 | 66 | 57 | 57 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CZU6 |
| O75390 | 31 | 66 | 55 | 55 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75390 | 67 | 88 | 76 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 82 | 86 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 67 | 88 | 65 | 69 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 76 | 76 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q29RK1 |
| O75390 | 67 | 88 | 70 | 74 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 67 | 88 | 87 | 89 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 28 | 466 | Chain | ID=PRO_0000005471;Note=Citrate synthase%2C mitochondrial |
| O75390 | 133 | 195 | 131 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 149 | 157 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 164 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 175 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 180 | 186 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 191 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 194 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZP |
| O75390 | 133 | 195 | 193 | 193 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CZU6 |
| O75390 | 133 | 195 | 183 | 183 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O75390 | 133 | 195 | 187 | 187 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CS |
| 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 CS |
| - 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 CS |
| 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 |
| ADstage | MSBB | IFG | exon_skip_54632 | 5.833306e-01 | 1.121450e-03 | chr12 | - | 56286595 | 56286645 | 56298609 | 56298691 | 56300160 | 56300316 |
| CDR | MSBB | IFG | exon_skip_54632 | 7.026454e-01 | 3.060000e-05 | chr12 | - | 56286595 | 56286645 | 56298609 | 56298691 | 56300160 | 56300316 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CS |
| 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 CS |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O75390 | approved|nutraceutical|vet_approved | DB04272 | Citric Acid | small molecule | O75390 |
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RelatedDiseases for CS |
| 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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