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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 CACNA1C |
 Gene summary |
| Gene information | Gene symbol | CACNA1C | Gene ID | 775 |
| Gene name | calcium voltage-gated channel subunit alpha1 C | |
| Synonyms | CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8 | |
| Cytomap | 12p13.33 | |
| Type of gene | protein-coding | |
| Description | voltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent, | |
| Modification date | 20200315 | |
| UniProtAcc | A0A087WUX4, A0A0A0MR67, | |
| Context | - 30102687(Micro-RNA-137 Inhibits Tau Hyperphosphorylation in Alzheimer's Disease and Targets the CACNA1C Gene in Transgenic Mice and Human Neuroblastoma SH-SY5Y Cells) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CACNA1C | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 12130699 |
| CACNA1C | GO:0061577 | calcium ion transmembrane transport via high voltage-gated calcium channel | 15454078 |
| CACNA1C | GO:0070588 | calcium ion transmembrane transport | 15454078 |
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Gene structures and expression levels for CACNA1C |
| 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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ENSG00000151067
| 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 |
| STG | UP | ENST00000399601.5 | CACNA1C-208:protein_coding:CACNA1C | 1.784894e+01 | 2.340930e+01 | 4.019822e-22 | 7.846788e-19 |
| CB | UP | ENST00000399591.5 | CACNA1C-205:protein_coding:CACNA1C | 7.353162e+00 | 2.730863e+00 | 6.691923e-04 | 3.687815e-03 |
| CB | UP | ENST00000335762.9 | CACNA1C-202:protein_coding:CACNA1C | 1.099252e+01 | 8.900795e-01 | 4.660933e-03 | 1.858148e-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 CACNA1C |
| 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_101897 | chr12 | 2493202:2493386:2504436:2504539:2512812:2512984 | 2504436:2504539 |
| exon_skip_103564 | chr12 | 2493202:2493386:2504842:2504945:2512812:2512984 | 2504842:2504945 |
| exon_skip_113968 | chr12 | 2585835:2585904:2593213:2593345:2595874:2596003 | 2593213:2593345 |
| exon_skip_157126 | chr12 | 2595874:2596003:2597230:2597289:2597437:2597496 | 2597230:2597289 |
| exon_skip_179869 | chr12 | 2679444:2679796:2680363:2680575:2682550:2682678 | 2680363:2680575 |
| exon_skip_194241 | chr12 | 2597230:2597289:2597437:2597496:2601854:2601960 | 2597437:2597496 |
| exon_skip_202979 | chr12 | 2595874:2596003:2597230:2597289:2601854:2601960 | 2597230:2597289 |
| exon_skip_208569 | chr12 | 2677094:2677221:2677733:2677867:2679444:2679796 | 2677733:2677867 |
| exon_skip_20883 | chr12 | 2611903:2612013:2633629:2633712:2648475:2648507 | 2633629:2633712 |
| exon_skip_218030 | chr12 | 2512812:2512984:2549943:2550033:2556951:2556977 | 2549943:2550033 |
| exon_skip_220399 | chr12 | 2595874:2596003:2597437:2597496:2601854:2601960 | 2597437:2597496 |
| exon_skip_221749 | chr12 | 2486104:2486262:2493190:2493386:2549943:2550033 | 2493190:2493386 |
| exon_skip_222792 | chr12 | 2611903:2612013:2634297:2634380:2648475:2648507 | 2634297:2634380 |
| exon_skip_225907 | chr12 | 2634297:2634380:2648475:2648507:2651640:2651768 | 2648475:2648507 |
| exon_skip_228472 | chr12 | 2512812:2512984:2547450:2547524:2549943:2550033 | 2547450:2547524 |
| exon_skip_235621 | chr12 | 2633629:2633712:2634297:2634380:2651640:2651747 | 2634297:2634380 |
| exon_skip_255833 | chr12 | 2611903:2612013:2633629:2633712:2634297:2634374 | 2633629:2633712 |
| exon_skip_268455 | chr12 | 2633629:2633712:2634297:2634380:2648475:2648507 | 2634297:2634380 |
| exon_skip_4365 | chr12 | 2633629:2633712:2648475:2648507:2651640:2651747 | 2648475:2648507 |
| exon_skip_57923 | chr12 | 2634297:2634380:2648475:2648507:2651640:2651747 | 2648475:2648507 |
| exon_skip_58085 | chr12 | 2686166:2686269:2688447:2688779:2690900:2691267 | 2688447:2688779 |
| exon_skip_73447 | chr12 | 2679444:2679796:2681950:2682054:2682550:2682678 | 2681950:2682054 |
| exon_skip_78686 | chr12 | 2605081:2605168:2605679:2605786:2606611:2606663 | 2605679:2605786 |
| exon_skip_83417 | chr12 | 2611903:2612013:2633629:2633712:2634297:2634380 | 2633629:2633712 |
| exon_skip_9798 | chr12 | 2679444:2679796:2682550:2682678:2685736:2685842 | 2682550:2682678 |
| 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 CACNA1C |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CACNA1C |
p-ENSG00000151067_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 CACNA1C |
| 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 CACNA1C |
| - 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 CACNA1C |
| 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 CACNA1C |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_101897 | rs4765961 | chr12:2559306 | 5.062763e-05 | 9.959943e-03 |
| CB | exon_skip_101897 | rs929492 | chr12:2561414 | 5.062763e-05 | 9.959943e-03 |
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Correlation with RNA binding proteins (RBPs) for CACNA1C |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SAMD4A | exon_skip_208569 | -4.914374e-01 | 2.609381e-10 |
| CB | CNOT4 | exon_skip_208569 | -5.342901e-01 | 3.178969e-12 |
| CB | PCBP1 | exon_skip_208569 | -4.817383e-01 | 6.518608e-10 |
| CB | PCBP4 | exon_skip_208569 | 4.708034e-01 | 1.769255e-09 |
| CB | TRA2A | exon_skip_208569 | -5.526160e-01 | 3.963508e-13 |
| CB | EIF4G2 | exon_skip_208569 | -4.795035e-01 | 8.017211e-10 |
| CB | RBM23 | exon_skip_208569 | -4.197874e-01 | 1.204681e-07 |
| CB | SRSF1 | exon_skip_208569 | -4.434566e-01 | 1.852551e-08 |
| CB | HNRNPF | exon_skip_208569 | -4.806646e-01 | 7.201316e-10 |
| CB | RBM4B | exon_skip_208569 | -4.963745e-01 | 1.619244e-10 |
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RelatedDrugs for CACNA1C |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q13936 | approved|investigational | DB00243 | Ranolazine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB00270 | Isradipine | small molecule | Q13936 |
| Q13936 | approved | DB00308 | Ibutilide | small molecule | Q13936 |
| Q13936 | approved | DB00381 | Amlodipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB00393 | Nimodipine | small molecule | Q13936 |
| Q13936 | approved | DB00401 | Nisoldipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB00568 | Cinnarizine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB00622 | Nicardipine | small molecule | Q13936 |
| Q13936 | approved|investigational|vet_approved | DB00653 | Magnesium sulfate | small molecule | Q13936 |
| Q13936 | approved | DB00661 | Verapamil | small molecule | Q13936 |
| Q13936 | approved | DB00898 | Ethanol | small molecule | Q13936 |
| Q13936 | approved|investigational | DB01023 | Felodipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB01054 | Nitrendipine | small molecule | Q13936 |
| Q13936 | approved | DB01115 | Nifedipine | small molecule | Q13936 |
| Q13936 | approved|nutraceutical | DB01373 | Calcium | small molecule | Q13936 |
| Q13936 | approved | DB04855 | Dronedarone | small molecule | Q13936 |
| Q13936 | approved|investigational | DB04920 | Clevidipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB06751 | Drotaverine | small molecule | Q13936 |
| Q13936 | approved | DB09089 | Trimebutine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB09236 | Lacidipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB09238 | Manidipine | small molecule | Q13936 |
| Q13936 | approved|investigational | DB11633 | Isavuconazole | small molecule | Q13936 |
| Q13936 | approved|investigational | DB12278 | Propiverine | small molecule | Q13936 |
| Q13936 | approved|experimental | DB13746 | Bioallethrin | small molecule | Q13936 |
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RelatedDiseases for CACNA1C |
| 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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