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Gene: CACNA1C |
Gene summary for CACNA1C |
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Gene information | Species | Human | Gene symbol | CACNA1C | Gene ID | 775 |
Gene name | calcium voltage-gated channel subunit alpha1 C | |
Gene Alias | CACH2 | |
Cytomap | 12p13.33 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | Q13936 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
775 | CACNA1C | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.45e-10 | 7.81e-01 | 0.281 |
775 | CACNA1C | A002-C-021 | Human | Colorectum | FAP | 1.14e-03 | 2.42e-01 | 0.1171 |
775 | CACNA1C | CRC-1-8810 | Human | Colorectum | CRC | 2.35e-12 | 5.68e-01 | 0.6257 |
775 | CACNA1C | C21 | Human | Oral cavity | OSCC | 2.20e-02 | -3.07e-01 | 0.2678 |
775 | CACNA1C | C43 | Human | Oral cavity | OSCC | 2.01e-07 | -3.07e-01 | 0.1704 |
775 | CACNA1C | C46 | Human | Oral cavity | OSCC | 1.43e-05 | -3.07e-01 | 0.1673 |
775 | CACNA1C | C57 | Human | Oral cavity | OSCC | 3.97e-03 | -3.07e-01 | 0.1679 |
775 | CACNA1C | C08 | Human | Oral cavity | OSCC | 2.29e-06 | -2.80e-01 | 0.1919 |
775 | CACNA1C | EOLP-1 | Human | Oral cavity | EOLP | 6.30e-14 | 6.62e-01 | -0.0202 |
775 | CACNA1C | NEOLP-1 | Human | Oral cavity | NEOLP | 3.69e-11 | 6.66e-01 | -0.0194 |
775 | CACNA1C | NEOLP-2 | Human | Oral cavity | NEOLP | 5.49e-10 | 4.97e-01 | -0.0196 |
775 | CACNA1C | NEOLP-3 | Human | Oral cavity | NEOLP | 1.46e-13 | 6.47e-01 | -0.0191 |
775 | CACNA1C | SYSMH1 | Human | Oral cavity | OSCC | 1.96e-09 | -3.06e-01 | 0.1127 |
775 | CACNA1C | SYSMH2 | Human | Oral cavity | OSCC | 4.27e-09 | -3.05e-01 | 0.2326 |
775 | CACNA1C | SYSMH3 | Human | Oral cavity | OSCC | 9.25e-09 | -3.07e-01 | 0.2442 |
775 | CACNA1C | SYSMH4 | Human | Oral cavity | OSCC | 4.33e-08 | -3.04e-01 | 0.1226 |
775 | CACNA1C | SYSMH5 | Human | Oral cavity | OSCC | 6.29e-07 | -3.02e-01 | 0.0647 |
775 | CACNA1C | SYSMH6 | Human | Oral cavity | OSCC | 1.79e-07 | -3.00e-01 | 0.1275 |
775 | CACNA1C | HTA12-15-2 | Human | Pancreas | PDAC | 2.53e-12 | 6.96e-01 | 0.2315 |
775 | CACNA1C | HTA12-16-2 | Human | Pancreas | PDAC | 1.71e-02 | 6.40e-01 | 0.0535 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00329702 | Colorectum | MSS | regulation of actin filament-based process | 128/3467 | 397/18723 | 2.47e-11 | 3.49e-09 | 128 |
GO:00300482 | Colorectum | MSS | actin filament-based movement | 44/3467 | 127/18723 | 1.11e-05 | 2.64e-04 | 44 |
GO:00989012 | Colorectum | MSS | regulation of cardiac muscle cell action potential | 15/3467 | 27/18723 | 1.81e-05 | 3.95e-04 | 15 |
GO:00989112 | Colorectum | MSS | regulation of ventricular cardiac muscle cell action potential | 9/3467 | 12/18723 | 3.24e-05 | 6.37e-04 | 9 |
GO:00860042 | Colorectum | MSS | regulation of cardiac muscle cell contraction | 15/3467 | 34/18723 | 5.22e-04 | 5.99e-03 | 15 |
GO:0086001 | Colorectum | MSS | cardiac muscle cell action potential | 26/3467 | 76/18723 | 8.18e-04 | 8.59e-03 | 26 |
GO:0086065 | Colorectum | MSS | cell communication involved in cardiac conduction | 21/3467 | 58/18723 | 1.11e-03 | 1.09e-02 | 21 |
GO:00902572 | Colorectum | MSS | regulation of muscle system process | 66/3467 | 252/18723 | 1.55e-03 | 1.41e-02 | 66 |
GO:00487362 | Colorectum | MSS | appendage development | 48/3467 | 172/18723 | 1.61e-03 | 1.46e-02 | 48 |
GO:00601732 | Colorectum | MSS | limb development | 48/3467 | 172/18723 | 1.61e-03 | 1.46e-02 | 48 |
GO:00516512 | Colorectum | MSS | maintenance of location in cell | 57/3467 | 214/18723 | 2.07e-03 | 1.76e-02 | 57 |
GO:0086005 | Colorectum | MSS | ventricular cardiac muscle cell action potential | 14/3467 | 35/18723 | 2.50e-03 | 2.01e-02 | 14 |
GO:0086091 | Colorectum | MSS | regulation of heart rate by cardiac conduction | 15/3467 | 39/18723 | 2.80e-03 | 2.19e-02 | 15 |
GO:1903115 | Colorectum | MSS | regulation of actin filament-based movement | 15/3467 | 39/18723 | 2.80e-03 | 2.19e-02 | 15 |
GO:0086064 | Colorectum | MSS | cell communication by electrical coupling involved in cardiac conduction | 11/3467 | 25/18723 | 2.96e-03 | 2.28e-02 | 11 |
GO:0070252 | Colorectum | MSS | actin-mediated cell contraction | 29/3467 | 97/18723 | 4.38e-03 | 3.10e-02 | 29 |
GO:0051349 | Colorectum | MSS | positive regulation of lyase activity | 10/3467 | 23/18723 | 5.06e-03 | 3.47e-02 | 10 |
GO:0086003 | Colorectum | MSS | cardiac muscle cell contraction | 23/3467 | 73/18723 | 5.22e-03 | 3.57e-02 | 23 |
GO:00030121 | Colorectum | MSS | muscle system process | 105/3467 | 452/18723 | 6.39e-03 | 4.26e-02 | 105 |
GO:00329704 | Colorectum | FAP | regulation of actin filament-based process | 105/2622 | 397/18723 | 3.15e-11 | 1.38e-08 | 105 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa047234 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
hsa049124 | Colorectum | MSS | GnRH signaling pathway | 35/1875 | 93/8465 | 4.81e-04 | 3.43e-03 | 2.10e-03 | 35 |
hsa04935 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa047284 | Colorectum | MSS | Dopaminergic synapse | 45/1875 | 132/8465 | 1.02e-03 | 5.94e-03 | 3.64e-03 | 45 |
hsa042604 | Colorectum | MSS | Cardiac muscle contraction | 31/1875 | 87/8465 | 2.73e-03 | 1.32e-02 | 8.12e-03 | 31 |
hsa04022 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
hsa047204 | Colorectum | MSS | Long-term potentiation | 24/1875 | 67/8465 | 7.27e-03 | 2.83e-02 | 1.73e-02 | 24 |
hsa04713 | Colorectum | MSS | Circadian entrainment | 32/1875 | 97/8465 | 8.84e-03 | 3.25e-02 | 1.99e-02 | 32 |
hsa04725 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa050105 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050205 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa047235 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
hsa049125 | Colorectum | MSS | GnRH signaling pathway | 35/1875 | 93/8465 | 4.81e-04 | 3.43e-03 | 2.10e-03 | 35 |
hsa049351 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa047285 | Colorectum | MSS | Dopaminergic synapse | 45/1875 | 132/8465 | 1.02e-03 | 5.94e-03 | 3.64e-03 | 45 |
hsa042605 | Colorectum | MSS | Cardiac muscle contraction | 31/1875 | 87/8465 | 2.73e-03 | 1.32e-02 | 8.12e-03 | 31 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
CACNA1C | SNV | Missense_Mutation | novel | c.521N>T | p.Ala174Val | p.A174V | Q13936 | protein_coding | deleterious(0.02) | benign(0.237) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA1C | SNV | Missense_Mutation | c.2129N>T | p.Ser710Leu | p.S710L | Q13936 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
CACNA1C | SNV | Missense_Mutation | c.2504N>A | p.Ser835Asn | p.S835N | Q13936 | protein_coding | tolerated(0.3) | benign(0.001) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
CACNA1C | SNV | Missense_Mutation | c.2617N>T | p.Pro873Ser | p.P873S | Q13936 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
CACNA1C | SNV | Missense_Mutation | rs753814903 | c.2293G>T | p.Ala765Ser | p.A765S | Q13936 | protein_coding | tolerated(0.07) | probably_damaging(0.998) | TCGA-AA-A01D-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | capecitabine | PD |
CACNA1C | SNV | Missense_Mutation | c.1412N>T | p.Thr471Ile | p.T471I | Q13936 | protein_coding | deleterious(0.04) | possibly_damaging(0.72) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
CACNA1C | SNV | Missense_Mutation | c.3014N>T | p.Gly1005Val | p.G1005V | Q13936 | protein_coding | tolerated(0.09) | probably_damaging(1) | TCGA-AD-6899-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
CACNA1C | SNV | Missense_Mutation | c.3056T>C | p.Val1019Ala | p.V1019A | Q13936 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
CACNA1C | SNV | Missense_Mutation | c.1333N>A | p.Glu445Lys | p.E445K | Q13936 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
CACNA1C | SNV | Missense_Mutation | c.1076N>A | p.Cys359Tyr | p.C359Y | Q13936 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200402 | AMLODIPINE BESYLATE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | 135650185 | DILTIAZEM | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | 53801058 | MIBEFRADIL | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | VERAPAMIL | VERAPAMIL | ||
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL29919 | ELPETRIGINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | inhibitor | 135650722 | NISOLDIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1648 | ISRADIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL193 | NIFEDIPINE | |
775 | CACNA1C | DRUGGABLE GENOME, ION CHANNEL | ARC029 |
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