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Gene: CACNA2D3 |
Gene summary for CACNA2D3 |
Gene summary. |
Gene information | Species | Human | Gene symbol | CACNA2D3 | Gene ID | 55799 |
Gene name | calcium voltage-gated channel auxiliary subunit alpha2delta 3 | |
Gene Alias | HSA272268 | |
Cytomap | 3p21.1-p14.3 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q8IZS8 |
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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 |
55799 | CACNA2D3 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 8.05e-31 | 1.05e+00 | -0.2116 |
55799 | CACNA2D3 | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 1.77e-11 | 9.39e-01 | -0.1941 |
55799 | CACNA2D3 | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 2.15e-08 | 7.08e-01 | -0.2107 |
55799 | CACNA2D3 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.83e-27 | 1.02e+00 | -0.2119 |
55799 | CACNA2D3 | HTA12-15-2 | Human | Pancreas | PDAC | 2.98e-11 | 6.99e-01 | 0.2315 |
55799 | CACNA2D3 | HTA12-23-1 | Human | Pancreas | PDAC | 2.93e-09 | 7.86e-01 | 0.3405 |
55799 | CACNA2D3 | HTA12-25-1 | Human | Pancreas | PDAC | 2.04e-11 | 8.47e-01 | 0.313 |
55799 | CACNA2D3 | HTA12-26-1 | Human | Pancreas | PDAC | 5.15e-35 | 1.33e+00 | 0.3728 |
55799 | CACNA2D3 | HTA12-29-1 | Human | Pancreas | PDAC | 2.26e-39 | 1.08e+00 | 0.3722 |
55799 | CACNA2D3 | HTA12-30-1 | Human | Pancreas | PDAC | 2.27e-04 | 9.84e-01 | 0.3671 |
55799 | CACNA2D3 | HTA12-32-1 | Human | Pancreas | PDAC | 1.46e-03 | 7.06e-01 | 0.3624 |
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Transcriptomic changes along malignancy continuum. |
Tissue | Expression Dynamics | Abbreviation |
Lung | AAH: Atypical adenomatous hyperplasia | |
AIS: Adenocarcinoma in situ | ||
IAC: Invasive lung adenocarcinoma | ||
MIA: Minimally invasive adenocarcinoma |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006816 | Lung | AIS | calcium ion transport | 58/1849 | 422/18723 | 6.08e-03 | 4.98e-02 | 58 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0401021 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
hsa0541221 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
hsa049212 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
hsa054142 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054102 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
hsa0401031 | Lung | AIS | MAPK signaling pathway | 57/961 | 302/8465 | 6.41e-05 | 9.43e-04 | 6.03e-04 | 57 |
hsa0541231 | Lung | AIS | Arrhythmogenic right ventricular cardiomyopathy | 21/961 | 77/8465 | 9.05e-05 | 1.18e-03 | 7.57e-04 | 21 |
hsa049213 | Lung | AIS | Oxytocin signaling pathway | 34/961 | 154/8465 | 9.12e-05 | 1.18e-03 | 7.57e-04 | 34 |
hsa054143 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054103 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
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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 |
CACNA2D3 | SNV | Missense_Mutation | novel | c.2753N>C | p.His918Pro | p.H918P | Q8IZS8 | protein_coding | tolerated(0.29) | benign(0.222) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
CACNA2D3 | SNV | Missense_Mutation | c.3101N>C | p.Tyr1034Ser | p.Y1034S | Q8IZS8 | protein_coding | deleterious(0) | benign(0.006) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response | |
CACNA2D3 | SNV | Missense_Mutation | novel | c.1389N>T | p.Gln463His | p.Q463H | Q8IZS8 | protein_coding | tolerated(0.06) | probably_damaging(0.986) | TCGA-EO-A3AZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNA2D3 | SNV | Missense_Mutation | c.2626N>T | p.Asp876Tyr | p.D876Y | Q8IZS8 | protein_coding | tolerated(0.06) | benign(0.162) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
CACNA2D3 | SNV | Missense_Mutation | novel | c.1721N>A | p.Ala574Asp | p.A574D | Q8IZS8 | protein_coding | tolerated(0.23) | possibly_damaging(0.891) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNA2D3 | SNV | Missense_Mutation | novel | c.1738A>G | p.Thr580Ala | p.T580A | Q8IZS8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA2D3 | SNV | Missense_Mutation | rs766330689 | c.652N>G | p.Lys218Glu | p.K218E | Q8IZS8 | protein_coding | deleterious(0) | benign(0.029) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA2D3 | SNV | Missense_Mutation | novel | c.2045N>T | p.Pro682Leu | p.P682L | Q8IZS8 | protein_coding | tolerated(0.1) | possibly_damaging(0.905) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA2D3 | SNV | Missense_Mutation | novel | c.873C>G | p.Phe291Leu | p.F291L | Q8IZS8 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FI-A2D4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
CACNA2D3 | SNV | Missense_Mutation | novel | c.823G>A | p.Ala275Thr | p.A275T | Q8IZS8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
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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 |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | celecoxib | CELECOXIB | 22336956 | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL593430 | ATAGABALIN | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL1059 | PREGABALIN | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL1628502 | GABAPENTIN ENACARBIL | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL2103836 | IMAGABALIN | |
55799 | CACNA2D3 | ION CHANNEL, DRUGGABLE GENOME | modulator | CHEMBL940 | GABAPENTIN |
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