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Gene: CACNA2D1 |
Gene summary for CACNA2D1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CACNA2D1 | Gene ID | 781 |
| Gene name | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | |
| Gene Alias | CACNA2 | |
| Cytomap | 7q21.11 | |
| Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | P54289 |
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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 |
| 781 | CACNA2D1 | CCI_2 | Human | Cervix | CC | 4.17e-07 | 8.25e-01 | 0.5249 |
| 781 | CACNA2D1 | CCI_3 | Human | Cervix | CC | 1.30e-32 | 1.46e+00 | 0.516 |
| 781 | CACNA2D1 | T1 | Human | Cervix | CC | 7.31e-05 | 2.03e-01 | 0.0918 |
| 781 | CACNA2D1 | P2T-E | Human | Esophagus | ESCC | 7.69e-06 | 2.13e-01 | 0.1177 |
| 781 | CACNA2D1 | P4T-E | Human | Esophagus | ESCC | 8.05e-03 | 7.56e-02 | 0.1323 |
| 781 | CACNA2D1 | P5T-E | Human | Esophagus | ESCC | 9.75e-21 | 4.26e-01 | 0.1327 |
| 781 | CACNA2D1 | P9T-E | Human | Esophagus | ESCC | 2.99e-14 | 3.63e-01 | 0.1131 |
| 781 | CACNA2D1 | P10T-E | Human | Esophagus | ESCC | 3.30e-17 | 2.84e-01 | 0.116 |
| 781 | CACNA2D1 | P11T-E | Human | Esophagus | ESCC | 5.37e-03 | 9.83e-02 | 0.1426 |
| 781 | CACNA2D1 | P19T-E | Human | Esophagus | ESCC | 1.61e-02 | 2.81e-01 | 0.1662 |
| 781 | CACNA2D1 | P23T-E | Human | Esophagus | ESCC | 6.86e-10 | 2.84e-01 | 0.108 |
| 781 | CACNA2D1 | P24T-E | Human | Esophagus | ESCC | 6.83e-13 | 3.08e-01 | 0.1287 |
| 781 | CACNA2D1 | P26T-E | Human | Esophagus | ESCC | 7.84e-19 | 3.42e-01 | 0.1276 |
| 781 | CACNA2D1 | P28T-E | Human | Esophagus | ESCC | 2.31e-04 | 1.53e-01 | 0.1149 |
| 781 | CACNA2D1 | P30T-E | Human | Esophagus | ESCC | 1.99e-07 | 2.61e-01 | 0.137 |
| 781 | CACNA2D1 | P32T-E | Human | Esophagus | ESCC | 4.66e-10 | 2.81e-01 | 0.1666 |
| 781 | CACNA2D1 | P36T-E | Human | Esophagus | ESCC | 1.79e-10 | 2.78e-01 | 0.1187 |
| 781 | CACNA2D1 | P37T-E | Human | Esophagus | ESCC | 8.81e-14 | 1.71e-01 | 0.1371 |
| 781 | CACNA2D1 | P40T-E | Human | Esophagus | ESCC | 3.12e-03 | 1.40e-01 | 0.109 |
| 781 | CACNA2D1 | P42T-E | Human | Esophagus | ESCC | 1.90e-07 | 2.02e-01 | 0.1175 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| ∗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:19016538 | Cervix | CC | cellular response to peptide | 72/2311 | 359/18723 | 1.89e-05 | 3.48e-04 | 72 |
| GO:00300487 | Cervix | CC | actin filament-based movement | 29/2311 | 127/18723 | 6.91e-04 | 6.33e-03 | 29 |
| GO:00347645 | Cervix | CC | positive regulation of transmembrane transport | 40/2311 | 219/18723 | 6.97e-03 | 3.76e-02 | 40 |
| GO:190165319 | Esophagus | ESCC | cellular response to peptide | 208/8552 | 359/18723 | 1.68e-06 | 2.01e-05 | 208 |
| GO:190165310 | Prostate | BPH | cellular response to peptide | 104/3107 | 359/18723 | 2.51e-09 | 1.00e-07 | 104 |
| GO:00300489 | Prostate | BPH | actin filament-based movement | 38/3107 | 127/18723 | 1.31e-04 | 1.18e-03 | 38 |
| GO:00030127 | Prostate | BPH | muscle system process | 103/3107 | 452/18723 | 3.54e-04 | 2.62e-03 | 103 |
| GO:1904646 | Prostate | BPH | cellular response to amyloid-beta | 15/3107 | 45/18723 | 4.57e-03 | 2.19e-02 | 15 |
| GO:00860018 | Prostate | BPH | cardiac muscle cell action potential | 21/3107 | 76/18723 | 1.05e-02 | 4.39e-02 | 21 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0426018 | Cervix | CC | Cardiac muscle contraction | 23/1267 | 87/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 23 |
| hsa040109 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
| hsa049218 | Cervix | CC | Oxytocin signaling pathway | 34/1267 | 154/8465 | 1.12e-02 | 3.42e-02 | 2.02e-02 | 34 |
| hsa0426019 | Cervix | CC | Cardiac muscle contraction | 23/1267 | 87/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 23 |
| hsa0401012 | Cervix | CC | MAPK signaling pathway | 62/1267 | 302/8465 | 4.89e-03 | 1.67e-02 | 9.86e-03 | 62 |
| hsa0492111 | Cervix | CC | Oxytocin signaling pathway | 34/1267 | 154/8465 | 1.12e-02 | 3.42e-02 | 2.02e-02 | 34 |
| hsa0401010 | Prostate | BPH | MAPK signaling pathway | 87/1718 | 302/8465 | 2.05e-04 | 1.13e-03 | 6.98e-04 | 87 |
| hsa0426024 | Prostate | BPH | Cardiac muscle contraction | 29/1718 | 87/8465 | 2.91e-03 | 1.12e-02 | 6.91e-03 | 29 |
| hsa0401013 | Prostate | BPH | MAPK signaling pathway | 87/1718 | 302/8465 | 2.05e-04 | 1.13e-03 | 6.98e-04 | 87 |
| hsa04260111 | Prostate | BPH | Cardiac muscle contraction | 29/1718 | 87/8465 | 2.91e-03 | 1.12e-02 | 6.91e-03 | 29 |
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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. |
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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 |
| CACNA2D1 | SNV | Missense_Mutation | c.1200N>T | p.Gln400His | p.Q400H | P54289 | protein_coding | deleterious(0.01) | possibly_damaging(0.754) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | SD | ||
| CACNA2D1 | SNV | Missense_Mutation | novel | c.2651A>T | p.Lys884Ile | p.K884I | P54289 | protein_coding | deleterious(0.03) | benign(0.082) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNA2D1 | SNV | Missense_Mutation | novel | c.2072A>G | p.Asn691Ser | p.N691S | P54289 | protein_coding | tolerated(0.14) | benign(0.037) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNA2D1 | SNV | Missense_Mutation | novel | c.1147C>T | p.Arg383Cys | p.R383C | P54289 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNA2D1 | SNV | Missense_Mutation | rs373911809 | c.818G>A | p.Arg273Gln | p.R273Q | P54289 | protein_coding | tolerated(0.09) | benign(0.105) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNA2D1 | SNV | Missense_Mutation | novel | c.845N>T | p.Thr282Ile | p.T282I | P54289 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AO-A12D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| CACNA2D1 | SNV | Missense_Mutation | c.2339N>C | p.Ile780Thr | p.I780T | P54289 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR | |
| CACNA2D1 | SNV | Missense_Mutation | c.2971N>A | p.Phe991Ile | p.F991I | P54289 | protein_coding | tolerated(0.31) | benign(0.192) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD | |
| CACNA2D1 | SNV | Missense_Mutation | c.605C>T | p.Ser202Leu | p.S202L | P54289 | protein_coding | deleterious(0.02) | benign(0.419) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| CACNA2D1 | insertion | In_Frame_Ins | novel | c.3168_3169insGCAGGCATGTGCCACCCAGCTAAAAAATACACCCGGCTA | p.Tyr1056_Thr1057insAlaGlyMetCysHisProAlaLysLysTyrThrArgLeu | p.Y1056_T1057insAGMCHPAKKYTRL | P54289 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
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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 |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | celecoxib | CELECOXIB | 22336956 | |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL3545257 | MIROGABALIN BESYLATE | |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | Mirogabalin | MIROGABALIN | ||
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | Amlodipine | AMLODIPINE | ||
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL593430 | ATAGABALIN | |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | FELODIPINE | FELODIPINE | ||
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | NIFEDIPINE | NIFEDIPINE | ||
| 781 | CACNA2D1 | DRUGGABLE GENOME, ION CHANNEL | SAFINAMIDE | SAFINAMIDE |
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