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Gene: CACNA1A |
Gene summary for CACNA1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CACNA1A | Gene ID | 773 |
| Gene name | calcium voltage-gated channel subunit alpha1 A | |
| Gene Alias | APCA | |
| Cytomap | 19p13.13 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | A0A1B0GVQ9 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 773 | CACNA1A | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.74e-05 | 3.16e-01 | -0.1207 |
| 773 | CACNA1A | HTA11_696_2000001011 | Human | Colorectum | AD | 3.94e-03 | 1.90e-01 | -0.1464 |
| 773 | CACNA1A | HTA11_866_2000001011 | Human | Colorectum | AD | 1.39e-02 | 1.59e-01 | -0.1001 |
| 773 | CACNA1A | AEH-subject5 | Human | Endometrium | AEH | 1.02e-02 | -7.87e-02 | -0.2953 |
| 773 | CACNA1A | EEC-subject3 | Human | Endometrium | EEC | 3.38e-10 | -5.74e-02 | -0.2525 |
| 773 | CACNA1A | GSM5276934 | Human | Endometrium | EEC | 4.37e-15 | 5.09e-01 | -0.0913 |
| 773 | CACNA1A | GSM5276937 | Human | Endometrium | EEC | 4.65e-02 | 2.07e-01 | -0.0897 |
| 773 | CACNA1A | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 3.38e-05 | -2.78e-02 | -0.1869 |
| 773 | CACNA1A | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 2.83e-02 | -1.83e-02 | -0.1875 |
| 773 | CACNA1A | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 6.23e-03 | -8.39e-02 | -0.1883 |
| 773 | CACNA1A | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 1.45e-04 | 4.94e-02 | -0.1917 |
| 773 | CACNA1A | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 1.28e-02 | -1.50e-02 | -0.1916 |
| 773 | CACNA1A | GSM6177623_NYU_UCEC3_Vis | Human | Endometrium | EEC | 4.20e-70 | 1.30e+00 | -0.1269 |
| 773 | CACNA1A | HTA12-15-2 | Human | Pancreas | PDAC | 6.79e-18 | 9.92e-01 | 0.2315 |
| 773 | CACNA1A | HTA12-23-1 | Human | Pancreas | PDAC | 1.09e-21 | 1.40e+00 | 0.3405 |
| 773 | CACNA1A | HTA12-25-1 | Human | Pancreas | PDAC | 2.96e-24 | 1.41e+00 | 0.313 |
| 773 | CACNA1A | HTA12-26-1 | Human | Pancreas | PDAC | 4.07e-55 | 1.83e+00 | 0.3728 |
| 773 | CACNA1A | HTA12-29-1 | Human | Pancreas | PDAC | 6.72e-118 | 1.88e+00 | 0.3722 |
| 773 | CACNA1A | HTA12-30-1 | Human | Pancreas | PDAC | 5.68e-12 | 1.63e+00 | 0.3671 |
| 773 | CACNA1A | HTA12-32-1 | Human | Pancreas | PDAC | 1.71e-15 | 1.83e+00 | 0.3624 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:1901653 | Colorectum | AD | cellular response to peptide | 114/3918 | 359/18723 | 8.32e-07 | 2.88e-05 | 114 |
| GO:19016539 | Endometrium | AEH | cellular response to peptide | 64/2100 | 359/18723 | 1.16e-04 | 1.63e-03 | 64 |
| GO:190165314 | Endometrium | EEC | cellular response to peptide | 68/2168 | 359/18723 | 2.75e-05 | 4.83e-04 | 68 |
| GO:190165325 | Thyroid | ATC | cellular response to peptide | 173/6293 | 359/18723 | 5.87e-09 | 1.28e-07 | 173 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa04723 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
| hsa04728 | Colorectum | AD | Dopaminergic synapse | 46/2092 | 132/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 46 |
| hsa047231 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
| hsa047281 | Colorectum | AD | Dopaminergic synapse | 46/2092 | 132/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 46 |
| hsa0472320 | Endometrium | AEH | Retrograde endocannabinoid signaling | 39/1197 | 148/8465 | 5.89e-05 | 5.80e-04 | 4.24e-04 | 39 |
| hsa04723110 | Endometrium | AEH | Retrograde endocannabinoid signaling | 39/1197 | 148/8465 | 5.89e-05 | 5.80e-04 | 4.24e-04 | 39 |
| hsa0501723 | Endometrium | EEC | Spinocerebellar ataxia | 43/1237 | 143/8465 | 1.46e-06 | 2.01e-05 | 1.50e-05 | 43 |
| hsa0501733 | Endometrium | EEC | Spinocerebellar ataxia | 43/1237 | 143/8465 | 1.46e-06 | 2.01e-05 | 1.50e-05 | 43 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| CACNA1A | SNV | Missense_Mutation | novel | c.578N>T | p.Thr193Met | p.T193M | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-3C-AALJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| CACNA1A | SNV | Missense_Mutation | novel | c.6304C>A | p.Leu2102Ile | p.L2102I | protein_coding | deleterious(0) | possibly_damaging(0.772) | TCGA-A2-A0EP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR | |
| CACNA1A | SNV | Missense_Mutation | c.5434N>A | p.Val1812Ile | p.V1812I | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A2-A0SU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | ||
| CACNA1A | SNV | Missense_Mutation | c.999C>A | p.Asn333Lys | p.N333K | protein_coding | deleterious(0.01) | benign(0.163) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | ||
| CACNA1A | SNV | Missense_Mutation | c.3880N>C | p.Glu1294Gln | p.E1294Q | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD | ||
| CACNA1A | SNV | Missense_Mutation | rs763911399 | c.806N>T | p.Pro269Leu | p.P269L | protein_coding | tolerated(0.29) | possibly_damaging(0.606) | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD | |
| CACNA1A | SNV | Missense_Mutation | c.5954N>T | p.Glu1985Val | p.E1985V | protein_coding | deleterious(0) | possibly_damaging(0.503) | TCGA-AO-A1KR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
| CACNA1A | SNV | Missense_Mutation | rs374720207 | c.3383N>T | p.Thr1128Met | p.T1128M | protein_coding | tolerated(0.29) | benign(0.015) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| CACNA1A | SNV | Missense_Mutation | c.713N>G | p.Leu238Arg | p.L238R | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| CACNA1A | SNV | Missense_Mutation | c.3447C>G | p.Ile1149Met | p.I1149M | protein_coding | tolerated(0.09) | possibly_damaging(0.838) | TCGA-BH-A0AZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | PREGABALIN | PREGABALIN | ||
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL1628502 | GABAPENTIN ENACARBIL | |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | antidepressants | |||
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | NISOLDIPINE | NISOLDIPINE | ||
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL940 | GABAPENTIN | |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL2103836 | IMAGABALIN | |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL593430 | ATAGABALIN | |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | XEN007 | |||
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
| 773 | CACNA1A | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL29919 | ELPETRIGINE |
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