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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | |
| 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 | 20180523 | |
| UniProtAcc | Q13936 | |
| Context | PubMed: CACNA1C [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for CACNA1C from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for CACNA1C |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CACNA1C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79025 | 12 | 2602367:2602552:2613601:2613705:2621977:2622150 | 2613601:2613705 | ENSG00000151067.16 | ENST00000406454.3,ENST00000399603.1,ENST00000399617.1,ENST00000399641.1,ENST00000399634.1 |
| exon_skip_79026 | 12 | 2602367:2602552:2614007:2614111:2621977:2622150 | 2614007:2614111 | ENSG00000151067.16 | ENST00000399638.1,ENST00000480911.1,ENST00000399597.1,ENST00000399637.1,ENST00000344100.3,ENST00000399644.1,ENST00000399621.1,ENST00000399591.1,ENST00000402845.3,ENST00000399655.1,ENST00000399601.1,ENST00000347598.4,ENST00000399595.1,ENST00000399606.1,ENS |
| exon_skip_79028 | 12 | 2621977:2622150:2656615:2656690:2659108:2659199 | 2656615:2656690 | ENSG00000151067.16 | ENST00000335762.5 |
| exon_skip_79032 | 12 | 2705039:2705169:2706395:2706455:2706602:2706662 | 2706395:2706455 | ENSG00000151067.16 | ENST00000347598.4,ENST00000399606.1 |
| exon_skip_79033 | 12 | 2705039:2705169:2706395:2706455:2711019:2711126 | 2706395:2706455 | ENSG00000151067.16 | ENST00000399638.1,ENST00000406454.3,ENST00000399597.1,ENST00000344100.3,ENST00000399621.1,ENST00000399603.1,ENST00000399617.1,ENST00000402845.3,ENST00000399655.1,ENST00000399634.1,ENST00000399595.1,ENST00000399649.1,ENST00000335762.5 |
| exon_skip_79034 | 12 | 2705039:2705169:2706602:2706662:2711019:2711126 | 2706602:2706662 | ENSG00000151067.16 | ENST00000480911.1,ENST00000399637.1,ENST00000399644.1,ENST00000399591.1,ENST00000399641.1,ENST00000399601.1,ENST00000399629.1,ENST00000327702.7 |
| exon_skip_79035 | 12 | 2706395:2706455:2706602:2706662:2711019:2711126 | 2706602:2706662 | ENSG00000151067.16 | ENST00000347598.4,ENST00000399606.1 |
| exon_skip_79036 | 12 | 2721068:2721179:2742794:2742878:2743462:2743540 | 2742794:2742878 | ENSG00000151067.16 | ENST00000399638.1,ENST00000347598.4,ENST00000399629.1 |
| exon_skip_79037 | 12 | 2721068:2721179:2742794:2742878:2757640:2757673 | 2742794:2742878 | ENSG00000151067.16 | ENST00000406454.3,ENST00000399597.1,ENST00000399644.1,ENST00000399603.1,ENST00000399617.1,ENST00000402845.3 |
| exon_skip_79040 | 12 | 2721068:2721179:2743462:2743540:2760805:2760913 | 2743462:2743540 | ENSG00000151067.16 | ENST00000399649.1 |
| exon_skip_79041 | 12 | 2721068:2721179:2743462:2743546:2757640:2757673 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399637.1,ENST00000344100.3,ENST00000399621.1,ENST00000399641.1,ENST00000399655.1,ENST00000399601.1,ENST00000399634.1,ENST00000399606.1,ENST00000327702.7,ENST00000335762.5 |
| exon_skip_79042 | 12 | 2721068:2721179:2743462:2743546:2760805:2760913 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399591.1,ENST00000399595.1 |
| exon_skip_79046 | 12 | 2742794:2742878:2743462:2743546:2757640:2757673 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399638.1,ENST00000347598.4 |
| exon_skip_79047 | 12 | 2742794:2742878:2743462:2743546:2760805:2760913 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399629.1 |
| exon_skip_79048 | 12 | 2742794:2742878:2757640:2757673:2760805:2760913 | 2757640:2757673 | ENSG00000151067.16 | ENST00000406454.3,ENST00000399597.1,ENST00000399644.1,ENST00000399603.1,ENST00000399617.1,ENST00000402845.3 |
| exon_skip_79052 | 12 | 2743462:2743546:2757640:2757673:2760805:2760913 | 2757640:2757673 | ENSG00000151067.16 | ENST00000399638.1,ENST00000399637.1,ENST00000399621.1,ENST00000399641.1,ENST00000399655.1,ENST00000399601.1,ENST00000399634.1,ENST00000347598.4,ENST00000399606.1,ENST00000327702.7,ENST00000335762.5 |
| exon_skip_79053 | 12 | 2760805:2760934:2763000:2763066:2764312:2764359 | 2763000:2763066 | ENSG00000151067.16 | ENST00000399638.1,ENST00000406454.3,ENST00000399597.1,ENST00000399637.1,ENST00000344100.3,ENST00000399644.1,ENST00000399621.1,ENST00000399591.1,ENST00000399603.1,ENST00000399617.1,ENST00000399641.1,ENST00000402845.3,ENST00000399655.1,ENST00000399601.1,ENS |
| exon_skip_79054 | 12 | 2786259:2786387:2786898:2787033:2788609:2788962 | 2786898:2787033 | ENSG00000151067.16 | ENST00000399638.1,ENST00000406454.3,ENST00000399597.1,ENST00000399637.1,ENST00000344100.3,ENST00000399644.1,ENST00000399621.1,ENST00000399591.1,ENST00000399603.1,ENST00000399617.1,ENST00000399641.1,ENST00000402845.3,ENST00000399655.1,ENST00000399601.1,ENS |
| exon_skip_79056 | 12 | 2788609:2788962:2789528:2789741:2791715:2791844 | 2789528:2789741 | ENSG00000151067.16 | ENST00000406454.3,ENST00000399634.1 |
| exon_skip_79058 | 12 | 2788609:2788962:2791115:2791220:2791715:2791844 | 2791115:2791220 | ENSG00000151067.16 | ENST00000399617.1,ENST00000327702.7 |
| exon_skip_79060 | 12 | 2795331:2795435:2797612:2797945:2800065:2800459 | 2797612:2797945 | ENSG00000151067.16 | ENST00000399638.1,ENST00000406454.3,ENST00000399597.1,ENST00000399637.1,ENST00000344100.3,ENST00000399644.1,ENST00000399621.1,ENST00000399591.1,ENST00000399603.1,ENST00000399617.1,ENST00000399641.1,ENST00000402845.3,ENST00000399655.1,ENST00000399601.1,ENS |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CACNA1C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79025 | 12 | 2602367:2602552:2613601:2613705:2621977:2622150 | 2613601:2613705 | ENSG00000151067.16 | ENST00000399641.1,ENST00000399603.1,ENST00000399634.1,ENST00000399617.1,ENST00000406454.3 |
| exon_skip_79026 | 12 | 2602367:2602552:2614007:2614111:2621977:2622150 | 2614007:2614111 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000480911.1,ENST00000399595.1,ENST00000399644.1,ENST00000399638.1,ENST00000399597.1,ENST00000399621.1,ENST00000399637.1,ENST00000399591.1,ENST00000347598.4,ENST00000399606.1,ENST00000399601.1,ENST00000344100.3,ENS |
| exon_skip_79028 | 12 | 2621977:2622150:2656615:2656690:2659108:2659199 | 2656615:2656690 | ENSG00000151067.16 | ENST00000335762.5 |
| exon_skip_79032 | 12 | 2705039:2705169:2706395:2706455:2706602:2706662 | 2706395:2706455 | ENSG00000151067.16 | ENST00000347598.4,ENST00000399606.1 |
| exon_skip_79033 | 12 | 2705039:2705169:2706395:2706455:2711019:2711126 | 2706395:2706455 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399595.1,ENST00000399638.1,ENST00000399597.1,ENST00000399621.1,ENST00000344100.3,ENST00000399649.1,ENST00000402845.3,ENST00000399603.1,ENST00000399634.1,ENST00000399617.1,ENST00000406454.3 |
| exon_skip_79034 | 12 | 2705039:2705169:2706602:2706662:2711019:2711126 | 2706602:2706662 | ENSG00000151067.16 | ENST00000480911.1,ENST00000399644.1,ENST00000399637.1,ENST00000399591.1,ENST00000399641.1,ENST00000399601.1,ENST00000399629.1,ENST00000327702.7 |
| exon_skip_79035 | 12 | 2706395:2706455:2706602:2706662:2711019:2711126 | 2706602:2706662 | ENSG00000151067.16 | ENST00000347598.4,ENST00000399606.1 |
| exon_skip_79036 | 12 | 2721068:2721179:2742794:2742878:2743462:2743540 | 2742794:2742878 | ENSG00000151067.16 | ENST00000399638.1,ENST00000347598.4,ENST00000399629.1 |
| exon_skip_79037 | 12 | 2721068:2721179:2742794:2742878:2757640:2757673 | 2742794:2742878 | ENSG00000151067.16 | ENST00000399644.1,ENST00000399597.1,ENST00000402845.3,ENST00000399603.1,ENST00000399617.1,ENST00000406454.3 |
| exon_skip_79040 | 12 | 2721068:2721179:2743462:2743540:2760805:2760913 | 2743462:2743540 | ENSG00000151067.16 | ENST00000399649.1 |
| exon_skip_79041 | 12 | 2721068:2721179:2743462:2743546:2757640:2757673 | 2743462:2743546 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399621.1,ENST00000399637.1,ENST00000399641.1,ENST00000399606.1,ENST00000399601.1,ENST00000344100.3,ENST00000327702.7,ENST00000399634.1 |
| exon_skip_79042 | 12 | 2721068:2721179:2743462:2743546:2760805:2760913 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399595.1,ENST00000399591.1 |
| exon_skip_79046 | 12 | 2742794:2742878:2743462:2743546:2757640:2757673 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399638.1,ENST00000347598.4 |
| exon_skip_79047 | 12 | 2742794:2742878:2743462:2743546:2760805:2760913 | 2743462:2743546 | ENSG00000151067.16 | ENST00000399629.1 |
| exon_skip_79048 | 12 | 2742794:2742878:2757640:2757673:2760805:2760913 | 2757640:2757673 | ENSG00000151067.16 | ENST00000399644.1,ENST00000399597.1,ENST00000402845.3,ENST00000399603.1,ENST00000399617.1,ENST00000406454.3 |
| exon_skip_79052 | 12 | 2743462:2743546:2757640:2757673:2760805:2760913 | 2757640:2757673 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399638.1,ENST00000399621.1,ENST00000399637.1,ENST00000399641.1,ENST00000347598.4,ENST00000399606.1,ENST00000399601.1,ENST00000327702.7,ENST00000399634.1 |
| exon_skip_79053 | 12 | 2760805:2760934:2763000:2763066:2764312:2764359 | 2763000:2763066 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399595.1,ENST00000399644.1,ENST00000399638.1,ENST00000399597.1,ENST00000399621.1,ENST00000399637.1,ENST00000399591.1,ENST00000399641.1,ENST00000347598.4,ENST00000399606.1,ENST00000399601.1,ENST00000344100.3,ENS |
| exon_skip_79054 | 12 | 2786259:2786387:2786898:2787033:2788609:2788962 | 2786898:2787033 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399595.1,ENST00000399644.1,ENST00000399638.1,ENST00000399597.1,ENST00000399621.1,ENST00000399637.1,ENST00000399591.1,ENST00000399641.1,ENST00000347598.4,ENST00000399606.1,ENST00000399601.1,ENST00000344100.3,ENS |
| exon_skip_79056 | 12 | 2788609:2788962:2789528:2789741:2791715:2791844 | 2789528:2789741 | ENSG00000151067.16 | ENST00000399634.1,ENST00000406454.3 |
| exon_skip_79058 | 12 | 2788609:2788962:2791115:2791220:2791715:2791844 | 2791115:2791220 | ENSG00000151067.16 | ENST00000327702.7,ENST00000399617.1 |
| exon_skip_79060 | 12 | 2795331:2795435:2797612:2797945:2800065:2800459 | 2797612:2797945 | ENSG00000151067.16 | ENST00000335762.5,ENST00000399655.1,ENST00000399595.1,ENST00000399644.1,ENST00000399638.1,ENST00000399597.1,ENST00000399621.1,ENST00000399637.1,ENST00000399591.1,ENST00000399641.1,ENST00000347598.4,ENST00000399606.1,ENST00000399601.1,ENST00000344100.3,ENS |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA 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 GTEx 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 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for CACNA1C |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79026 | 2614008 | 2614111 | 2614074 | 2614074 | Frame_Shift_Del | T | - | p.F395fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_79026 | 2614008 | 2614111 | 2614074 | 2614074 | Frame_Shift_Del | T | - | p.F395fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_79026 | 2614008 | 2614111 | 2614074 | 2614074 | Frame_Shift_Del | T | - | p.F395fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_79026 | 2614008 | 2614111 | 2614074 | 2614074 | Frame_Shift_Del | T | - | p.S393fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706402 | 2706402 | Frame_Shift_Del | T | - | p.F934fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706407 | 2706407 | Frame_Shift_Del | T | - | p.Y935fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706407 | 2706407 | Frame_Shift_Del | T | - | p.Y935fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706407 | 2706407 | Frame_Shift_Del | T | - | p.Y935fs |
| KIRC | TCGA-CJ-4869-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706417 | 2706417 | Frame_Shift_Del | G | - | p.V939fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79037 exon_skip_79036 | 2742795 | 2742878 | 2742820 | 2742820 | Frame_Shift_Del | T | - | p.V1285fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79040 | 2743463 | 2743540 | 2743493 | 2743493 | Frame_Shift_Del | G | - | p.D1287fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79041 exon_skip_79042 exon_skip_79046 exon_skip_79047 | 2743463 | 2743546 | 2743493 | 2743493 | Frame_Shift_Del | G | - | p.D1287fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_79056 | 2789529 | 2789741 | 2789726 | 2789726 | Frame_Shift_Del | C | - | p.A1881fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_79060 | 2797613 | 2797945 | 2797681 | 2797681 | Frame_Shift_Del | T | - | p.P1951fs |
| STAD | TCGA-BR-8368-01 | exon_skip_79060 | 2797613 | 2797945 | 2797835 | 2797835 | Frame_Shift_Del | G | - | p.G2085fs |
| STAD | TCGA-BR-8368-01 | exon_skip_79060 | 2797613 | 2797945 | 2797835 | 2797835 | Frame_Shift_Del | G | - | p.G2086fs |
| BLCA | TCGA-E7-A6ME-01 | exon_skip_79026 | 2614008 | 2614111 | 2614033 | 2614033 | Nonsense_Mutation | G | A | p.W380* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_79026 | 2614008 | 2614111 | 2614040 | 2614040 | Nonsense_Mutation | G | A | p.W382* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_79026 | 2614008 | 2614111 | 2614040 | 2614040 | Nonsense_Mutation | G | A | p.W382X |
| UCEC | TCGA-D1-A16X-01 | exon_skip_79035 exon_skip_79034 | 2706603 | 2706662 | 2706648 | 2706648 | Nonsense_Mutation | G | T | p.E967* |
| ESCA | TCGA-L5-A893-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706457 | 2706457 | Splice_Site | T | G | . |
| ESCA | TCGA-L5-A893-01 | exon_skip_79033 exon_skip_79032 | 2706396 | 2706455 | 2706457 | 2706457 | Splice_Site | T | G | e21+2 |
| STAD | TCGA-BR-4255-01 | exon_skip_79035 exon_skip_79034 | 2706603 | 2706662 | 2706664 | 2706664 | Splice_Site | T | C | . |
| STAD | TCGA-BR-4255-01 | exon_skip_79035 exon_skip_79034 | 2706603 | 2706662 | 2706664 | 2706664 | Splice_Site | T | C | p.K971_splice |
| TGCT | TCGA-2G-AAEX-01 | exon_skip_79040 | 2743463 | 2743540 | 2743461 | 2743461 | Splice_Site | A | C | . |
| TGCT | TCGA-2G-AAEX-01 | exon_skip_79041 exon_skip_79042 exon_skip_79046 exon_skip_79047 | 2743463 | 2743546 | 2743461 | 2743461 | Splice_Site | A | C | . |
| COAD | TCGA-A6-6653-01 | exon_skip_79040 | 2743463 | 2743540 | 2743462 | 2743462 | Splice_Site | G | A | . |
| COAD | TCGA-A6-6653-01 | exon_skip_79041 exon_skip_79042 exon_skip_79046 exon_skip_79047 | 2743463 | 2743546 | 2743462 | 2743462 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2614008 | 2614111 | 2614074 | 2614074 | Frame_Shift_Del | T | - | p.F395fs |
| NCIH1993_LUNG | 2706396 | 2706455 | 2706418 | 2706418 | Frame_Shift_Del | T | - | p.V939fs |
| HEC50B_ENDOMETRIUM | 2789529 | 2789741 | 2789545 | 2789545 | Frame_Shift_Del | A | - | p.M1821fs |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 2789529 | 2789741 | 2789545 | 2789545 | Frame_Shift_Del | A | - | p.M1821fs |
| OVCAR4_OVARY | 2743463 | 2743540 | 2743479 | 2743487 | In_Frame_Del | CATGGAATA | - | p.WNT1331del |
| OVCAR4_OVARY | 2743463 | 2743546 | 2743479 | 2743487 | In_Frame_Del | CATGGAATA | - | p.WNT1331del |
| NCIH1930_LUNG | 2613602 | 2613705 | 2613604 | 2613604 | Missense_Mutation | G | T | p.M372I |
| HEC251_ENDOMETRIUM | 2656616 | 2656690 | 2656658 | 2656658 | Missense_Mutation | T | G | p.F478C |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2656616 | 2656690 | 2656679 | 2656679 | Missense_Mutation | C | T | p.T485I |
| SNU81_LARGE_INTESTINE | 2706396 | 2706455 | 2706432 | 2706432 | Missense_Mutation | T | G | p.F944V |
| M14_SKIN | 2706603 | 2706662 | 2706657 | 2706657 | Missense_Mutation | C | T | p.L970F |
| LS411N_LARGE_INTESTINE | 2742795 | 2742878 | 2742834 | 2742834 | Missense_Mutation | A | G | p.I1310V |
| MDAMB453_BREAST | 2742795 | 2742878 | 2742876 | 2742876 | Missense_Mutation | A | C | p.N1324H |
| MELJUSO_SKIN | 2743463 | 2743540 | 2743502 | 2743502 | Missense_Mutation | A | C | p.I1338L |
| MELJUSO_SKIN | 2743463 | 2743546 | 2743502 | 2743502 | Missense_Mutation | A | C | p.I1338L |
| NCIH835_LUNG | 2743463 | 2743540 | 2743530 | 2743530 | Missense_Mutation | C | A | p.A1347E |
| NCIH835_LUNG | 2743463 | 2743546 | 2743530 | 2743530 | Missense_Mutation | C | A | p.A1347E |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2743463 | 2743540 | 2743544 | 2743544 | Missense_Mutation | A | C | p.N1352H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2743463 | 2743546 | 2743544 | 2743544 | Missense_Mutation | A | C | p.N1352H |
| ES2_OVARY | 2763001 | 2763066 | 2763007 | 2763007 | Missense_Mutation | C | A | p.P1409T |
| SARC9371_BONE | 2763001 | 2763066 | 2763059 | 2763059 | Missense_Mutation | G | A | p.G1426E |
| NCIH1092_LUNG | 2786899 | 2787033 | 2786907 | 2786907 | Missense_Mutation | G | T | p.L1703F |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2786899 | 2787033 | 2786908 | 2786908 | Missense_Mutation | C | T | p.R1704C |
| C33A_CERVIX | 2786899 | 2787033 | 2786909 | 2786909 | Missense_Mutation | G | A | p.R1704H |
| UMUC5_URINARY_TRACT | 2786899 | 2787033 | 2786932 | 2786932 | Missense_Mutation | G | A | p.E1712K |
| KYSE510_OESOPHAGUS | 2786899 | 2787033 | 2786939 | 2786939 | Missense_Mutation | G | C | p.R1714P |
| SKNSH_AUTONOMIC_GANGLIA | 2786899 | 2787033 | 2787005 | 2787005 | Missense_Mutation | C | T | p.S1736F |
| SNU1040_LARGE_INTESTINE | 2786899 | 2787033 | 2787010 | 2787010 | Missense_Mutation | G | A | p.A1738T |
| COLO792_SKIN | 2789529 | 2789741 | 2789570 | 2789570 | Missense_Mutation | C | T | p.P1829L |
| K2_SKIN | 2789529 | 2789741 | 2789593 | 2789593 | Missense_Mutation | C | T | p.P1837S |
| D283MED_CENTRAL_NERVOUS_SYSTEM | 2789529 | 2789741 | 2789687 | 2789687 | Missense_Mutation | C | T | p.S1868F |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2789529 | 2789741 | 2789710 | 2789710 | Missense_Mutation | C | A | p.P1876T |
| NCIH1734_LUNG | 2789529 | 2789741 | 2789710 | 2789710 | Missense_Mutation | C | T | p.P1876S |
| MFE319_ENDOMETRIUM | 2789529 | 2789741 | 2789728 | 2789728 | Missense_Mutation | C | G | p.P1882A |
| EFO27_OVARY | 2791116 | 2791220 | 2791126 | 2791126 | Missense_Mutation | G | A | p.V1819I |
| SNU175_LARGE_INTESTINE | 2797613 | 2797945 | 2797625 | 2797625 | Missense_Mutation | G | A | p.A1981T |
| NB12_AUTONOMIC_GANGLIA | 2797613 | 2797945 | 2797662 | 2797662 | Missense_Mutation | C | T | p.P1993L |
| A375_SKIN | 2797613 | 2797945 | 2797739 | 2797739 | Missense_Mutation | A | C | p.T2019P |
| RCM1_LARGE_INTESTINE | 2797613 | 2797945 | 2797739 | 2797739 | Missense_Mutation | A | C | p.T2019P |
| SNU175_LARGE_INTESTINE | 2797613 | 2797945 | 2797745 | 2797745 | Missense_Mutation | C | T | p.R2021W |
| CAL29_URINARY_TRACT | 2797613 | 2797945 | 2797821 | 2797821 | Missense_Mutation | C | A | p.T2046N |
| NCIH146_LUNG | 2797613 | 2797945 | 2797826 | 2797826 | Missense_Mutation | C | T | p.P2048S |
| SNU1040_LARGE_INTESTINE | 2797613 | 2797945 | 2797826 | 2797826 | Missense_Mutation | C | A | p.P2048T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 2797613 | 2797945 | 2797857 | 2797857 | Missense_Mutation | G | T | p.R2058I |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 2797613 | 2797945 | 2797884 | 2797884 | Missense_Mutation | C | A | p.P2067H |
| 253JBV_URINARY_TRACT | 2797613 | 2797945 | 2797916 | 2797916 | Missense_Mutation | C | T | p.H2078Y |
| HEC1A_ENDOMETRIUM | 2786899 | 2787033 | 2786938 | 2786938 | Nonsense_Mutation | C | T | p.R1714* |
| HEC1_ENDOMETRIUM | 2786899 | 2787033 | 2786938 | 2786938 | Nonsense_Mutation | C | T | p.R1714* |
| OE19_OESOPHAGUS | 2789529 | 2789741 | 2789698 | 2789698 | Nonsense_Mutation | G | T | p.G1872* |
| IPC298_SKIN | 2757641 | 2757673 | 2757641 | 2757641 | Splice_Site | C | T | p.P1353S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CACNA1C |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_79058 | 12 | 2788609:2788962:2791115:2791220:2791715:2791844 | 2791115:2791220 | ENST00000399617.1,ENST00000327702.7 | PAAD | rs10848683 | chr12:2791130 | C/T | 2.50e-09 |
| exon_skip_79058 | 12 | 2788609:2788962:2791115:2791220:2791715:2791844 | 2791115:2791220 | ENST00000399617.1,ENST00000327702.7 | PAAD | rs10774053 | chr12:2791132 | A/G | 1.09e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACNA1C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACNA1C |
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RelatedDrugs for CACNA1C |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q13936 | DB00308 | Ibutilide | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB00381 | Amlodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB00401 | Nisoldipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB00661 | Verapamil | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB00898 | Ethanol | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB01115 | Nifedipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB04855 | Dronedarone | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB09089 | Trimebutine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved | |
| Q13936 | DB13746 | Bioallethrin | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|experimental | |
| Q13936 | DB00243 | Ranolazine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB00270 | Isradipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB00393 | Nimodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB00568 | Cinnarizine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB00622 | Nicardipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB01023 | Felodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB01054 | Nitrendipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB04920 | Clevidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB06751 | Drotaverine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB09236 | Lacidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB09238 | Manidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB11633 | Isavuconazole | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB12278 | Propiverine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational | |
| Q13936 | DB00653 | Magnesium sulfate | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational|vet_approved | |
| Q13936 | DB01373 | Calcium | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|nutraceutical |
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RelatedDiseases for CACNA1C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CACNA1C | C0005586 | Bipolar Disorder | 8 | CTD_human;PSYGENET |
| CACNA1C | C1832916 | Timothy syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
| CACNA1C | C0011570 | Mental Depression | 5 | PSYGENET |
| CACNA1C | C0011581 | Depressive disorder | 5 | PSYGENET |
| CACNA1C | C0041696 | Unipolar Depression | 5 | PSYGENET |
| CACNA1C | C0525045 | Mood Disorders | 5 | PSYGENET |
| CACNA1C | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| CACNA1C | C0036341 | Schizophrenia | 4 | PSYGENET |
| CACNA1C | C0033975 | Psychotic Disorders | 3 | PSYGENET |
| CACNA1C | C0178417 | Anhedonia | 2 | PSYGENET |
| CACNA1C | C0003811 | Cardiac Arrhythmia | 1 | CTD_human |
| CACNA1C | C0004352 | Autistic Disorder | 1 | CTD_human |
| CACNA1C | C0020538 | Hypertensive disease | 1 | CTD_human |
| CACNA1C | C0020615 | Hypoglycemia | 1 | CTD_human |
| CACNA1C | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| CACNA1C | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| CACNA1C | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| CACNA1C | C2678478 | Brugada Syndrome 3 | 1 | CTD_human;UNIPROT |
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