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Gene: CACNB3 |
Gene summary for CACNB3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CACNB3 | Gene ID | 784 |
| Gene name | calcium voltage-gated channel auxiliary subunit beta 3 | |
| Gene Alias | CAB3 | |
| Cytomap | 12q13.12 | |
| Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | P54284 |
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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 |
| 784 | CACNB3 | LZE24T | Human | Esophagus | ESCC | 5.94e-05 | 2.04e-01 | 0.0596 |
| 784 | CACNB3 | P1T-E | Human | Esophagus | ESCC | 3.03e-07 | 2.44e-01 | 0.0875 |
| 784 | CACNB3 | P2T-E | Human | Esophagus | ESCC | 1.84e-24 | 2.32e-01 | 0.1177 |
| 784 | CACNB3 | P4T-E | Human | Esophagus | ESCC | 2.59e-11 | 1.55e-01 | 0.1323 |
| 784 | CACNB3 | P8T-E | Human | Esophagus | ESCC | 1.32e-03 | 4.71e-02 | 0.0889 |
| 784 | CACNB3 | P9T-E | Human | Esophagus | ESCC | 2.36e-02 | 6.49e-02 | 0.1131 |
| 784 | CACNB3 | P10T-E | Human | Esophagus | ESCC | 4.76e-07 | 1.39e-01 | 0.116 |
| 784 | CACNB3 | P11T-E | Human | Esophagus | ESCC | 1.73e-06 | 2.51e-01 | 0.1426 |
| 784 | CACNB3 | P12T-E | Human | Esophagus | ESCC | 9.38e-17 | 2.36e-01 | 0.1122 |
| 784 | CACNB3 | P15T-E | Human | Esophagus | ESCC | 1.89e-05 | 1.54e-01 | 0.1149 |
| 784 | CACNB3 | P16T-E | Human | Esophagus | ESCC | 3.75e-08 | 1.43e-01 | 0.1153 |
| 784 | CACNB3 | P17T-E | Human | Esophagus | ESCC | 8.50e-05 | 2.07e-01 | 0.1278 |
| 784 | CACNB3 | P19T-E | Human | Esophagus | ESCC | 2.68e-03 | 2.35e-01 | 0.1662 |
| 784 | CACNB3 | P20T-E | Human | Esophagus | ESCC | 2.62e-03 | 1.38e-01 | 0.1124 |
| 784 | CACNB3 | P21T-E | Human | Esophagus | ESCC | 1.33e-17 | 1.31e-01 | 0.1617 |
| 784 | CACNB3 | P22T-E | Human | Esophagus | ESCC | 1.05e-06 | 1.04e-01 | 0.1236 |
| 784 | CACNB3 | P23T-E | Human | Esophagus | ESCC | 4.70e-02 | 1.04e-01 | 0.108 |
| 784 | CACNB3 | P24T-E | Human | Esophagus | ESCC | 3.10e-12 | 1.99e-01 | 0.1287 |
| 784 | CACNB3 | P26T-E | Human | Esophagus | ESCC | 3.99e-13 | 1.73e-01 | 0.1276 |
| 784 | CACNB3 | P27T-E | Human | Esophagus | ESCC | 5.65e-15 | 2.05e-01 | 0.1055 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗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:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
| GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
| GO:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
| GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
| GO:0032388110 | Esophagus | ESCC | positive regulation of intracellular transport | 152/8552 | 202/18723 | 7.89e-18 | 7.36e-16 | 152 |
| GO:1904951111 | Esophagus | ESCC | positive regulation of establishment of protein localization | 216/8552 | 319/18723 | 1.01e-15 | 6.86e-14 | 216 |
| GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
| GO:009031617 | Esophagus | ESCC | positive regulation of intracellular protein transport | 122/8552 | 160/18723 | 2.45e-15 | 1.49e-13 | 122 |
| GO:0071496111 | Esophagus | ESCC | cellular response to external stimulus | 215/8552 | 320/18723 | 4.29e-15 | 2.43e-13 | 215 |
| GO:0051222111 | Esophagus | ESCC | positive regulation of protein transport | 204/8552 | 303/18723 | 1.56e-14 | 8.38e-13 | 204 |
| GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
| GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
| GO:0031668111 | Esophagus | ESCC | cellular response to extracellular stimulus | 168/8552 | 246/18723 | 4.93e-13 | 2.23e-11 | 168 |
| GO:0031669110 | Esophagus | ESCC | cellular response to nutrient levels | 148/8552 | 215/18723 | 4.58e-12 | 1.76e-10 | 148 |
| GO:0031667111 | Esophagus | ESCC | response to nutrient levels | 289/8552 | 474/18723 | 9.25e-12 | 3.47e-10 | 289 |
| GO:0070482111 | Esophagus | ESCC | response to oxygen levels | 218/8552 | 347/18723 | 6.91e-11 | 2.17e-09 | 218 |
| GO:0036293111 | Esophagus | ESCC | response to decreased oxygen levels | 201/8552 | 322/18723 | 8.37e-10 | 2.04e-08 | 201 |
| GO:190547519 | Esophagus | ESCC | regulation of protein localization to membrane | 117/8552 | 175/18723 | 1.14e-08 | 2.26e-07 | 117 |
| GO:0071453110 | Esophagus | ESCC | cellular response to oxygen levels | 114/8552 | 177/18723 | 3.63e-07 | 5.06e-06 | 114 |
| GO:0036294110 | Esophagus | ESCC | cellular response to decreased oxygen levels | 105/8552 | 161/18723 | 4.20e-07 | 5.73e-06 | 105 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| CACNB3 | SNV | Missense_Mutation | novel | c.1060G>A | p.Glu354Lys | p.E354K | P54284 | protein_coding | deleterious(0) | possibly_damaging(0.7) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| CACNB3 | SNV | Missense_Mutation | c.1006A>G | p.Ile336Val | p.I336V | P54284 | protein_coding | tolerated(0.13) | possibly_damaging(0.826) | TCGA-E9-A1N5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| CACNB3 | SNV | Missense_Mutation | rs761197059 | c.135N>C | p.Glu45Asp | p.E45D | P54284 | protein_coding | deleterious(0.03) | probably_damaging(0.987) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
| CACNB3 | SNV | Missense_Mutation | rs761197059 | c.135N>C | p.Glu45Asp | p.E45D | P54284 | protein_coding | deleterious(0.03) | probably_damaging(0.987) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNB3 | SNV | Missense_Mutation | c.1015G>A | p.Glu339Lys | p.E339K | P54284 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-EK-A2RN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| CACNB3 | SNV | Missense_Mutation | novel | c.1222G>A | p.Glu408Lys | p.E408K | P54284 | protein_coding | tolerated_low_confidence(0.2) | benign(0.04) | TCGA-VS-A952-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNB3 | SNV | Missense_Mutation | novel | c.1361N>C | p.Asp454Ala | p.D454A | P54284 | protein_coding | deleterious_low_confidence(0) | benign(0.026) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| CACNB3 | SNV | Missense_Mutation | c.695N>A | p.Pro232Gln | p.P232Q | P54284 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
| CACNB3 | SNV | Missense_Mutation | rs758647170 | c.743N>T | p.Ala248Val | p.A248V | P54284 | protein_coding | deleterious(0.04) | probably_damaging(0.985) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| CACNB3 | SNV | Missense_Mutation | c.694N>T | p.Pro232Ser | p.P232S | P54284 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | 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 |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | modulator | CHEMBL593430 | ATAGABALIN | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | VERAPAMIL | VERAPAMIL | ||
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | ARVERAPAMIL | |||
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | modulator | CHEMBL1059 | PREGABALIN | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | modulator | CHEMBL1628502 | GABAPENTIN ENACARBIL | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | celecoxib | CELECOXIB | 22336956 | |
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | SAFINAMIDE | SAFINAMIDE | ||
| 784 | CACNB3 | DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ION CHANNEL | VERAPAMIL | VERAPAMIL |
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