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Gene: CACNB4 |
Gene summary for CACNB4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CACNB4 | Gene ID | 785 |
| Gene name | calcium voltage-gated channel auxiliary subunit beta 4 | |
| Gene Alias | CAB4 | |
| Cytomap | 2q23.3 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | O00305 |
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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 |
| 785 | CACNB4 | RNA-P10T2-P10T2-3 | Human | Lung | AAH | 1.05e-04 | 8.72e-01 | -0.1408 |
| 785 | CACNB4 | RNA-P10T2-P10T2-4 | Human | Lung | AAH | 2.92e-04 | 8.16e-01 | -0.138 |
| 785 | CACNB4 | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 5.42e-23 | 1.05e+00 | -0.2116 |
| 785 | CACNB4 | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 2.40e-10 | 9.97e-01 | -0.1941 |
| 785 | CACNB4 | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 1.33e-07 | 8.88e-01 | -0.2107 |
| 785 | CACNB4 | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.23e-19 | 1.10e+00 | -0.2119 |
| 785 | CACNB4 | RNA-P6T1-P6T1-1 | Human | Lung | MIAC | 5.19e-04 | 1.13e+00 | -0.0238 |
| 785 | CACNB4 | RNA-P6T1-P6T1-2 | Human | Lung | MIAC | 5.12e-05 | 1.23e+00 | -0.0186 |
| 785 | CACNB4 | RNA-P6T1-P6T1-3 | Human | Lung | MIAC | 2.49e-03 | 1.24e+00 | -0.0296 |
| 785 | CACNB4 | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 3.01e-06 | 1.19e+00 | -0.0263 |
| 785 | CACNB4 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 1.01e-11 | 5.45e-01 | -0.0166 |
| 785 | CACNB4 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.62e-15 | 5.89e-01 | -0.0132 |
| 785 | CACNB4 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 5.67e-16 | 6.22e-01 | -0.013 |
| 785 | CACNB4 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 1.46e-13 | 5.78e-01 | -0.0121 |
| 785 | CACNB4 | RNA-P7T1-P7T1-1 | Human | Lung | AIS | 1.80e-05 | 6.97e-01 | -0.0961 |
| 785 | CACNB4 | RNA-P7T1-P7T1-2 | Human | Lung | AIS | 1.19e-05 | 6.76e-01 | -0.0876 |
| 785 | CACNB4 | RNA-P7T1-P7T1-3 | Human | Lung | AIS | 1.45e-06 | 7.41e-01 | -0.0822 |
| 785 | CACNB4 | RNA-P7T1-P7T1-4 | Human | Lung | AIS | 4.72e-06 | 7.37e-01 | -0.0809 |
| 785 | CACNB4 | 047563_1562-all-cells | Human | Prostate | BPH | 5.64e-13 | 2.70e-01 | 0.0791 |
| 785 | CACNB4 | 048752_1579-all-cells | Human | Prostate | BPH | 4.13e-31 | 8.10e-01 | 0.1008 |
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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 | ||
| 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:00324124 | Lung | IAC | regulation of ion transmembrane transporter activity | 45/2061 | 267/18723 | 2.43e-03 | 2.33e-02 | 45 |
| GO:00228984 | Lung | IAC | regulation of transmembrane transporter activity | 46/2061 | 278/18723 | 3.16e-03 | 2.75e-02 | 46 |
| GO:00508085 | Lung | IAC | synapse organization | 65/2061 | 426/18723 | 4.05e-03 | 3.31e-02 | 65 |
| GO:00324095 | Lung | IAC | regulation of transporter activity | 49/2061 | 310/18723 | 5.93e-03 | 4.30e-02 | 49 |
| GO:19040622 | Lung | IAC | regulation of cation transmembrane transport | 55/2061 | 357/18723 | 6.36e-03 | 4.52e-02 | 55 |
| GO:00109595 | Lung | IAC | regulation of metal ion transport | 61/2061 | 406/18723 | 7.31e-03 | 4.98e-02 | 61 |
| GO:005080811 | Lung | AIS | synapse organization | 63/1849 | 426/18723 | 7.39e-04 | 1.07e-02 | 63 |
| GO:003241211 | Lung | AIS | regulation of ion transmembrane transporter activity | 42/1849 | 267/18723 | 1.65e-03 | 1.89e-02 | 42 |
| GO:002289811 | Lung | AIS | regulation of transmembrane transporter activity | 43/1849 | 278/18723 | 2.04e-03 | 2.24e-02 | 43 |
| GO:001095912 | Lung | AIS | regulation of metal ion transport | 58/1849 | 406/18723 | 2.63e-03 | 2.67e-02 | 58 |
| GO:003240911 | Lung | AIS | regulation of transporter activity | 45/1849 | 310/18723 | 5.54e-03 | 4.71e-02 | 45 |
| GO:0006816 | Lung | AIS | calcium ion transport | 58/1849 | 422/18723 | 6.08e-03 | 4.98e-02 | 58 |
| GO:003241221 | Lung | AAH | regulation of ion transmembrane transporter activity | 19/613 | 267/18723 | 1.33e-03 | 3.62e-02 | 19 |
| GO:002289821 | Lung | AAH | regulation of transmembrane transporter activity | 19/613 | 278/18723 | 2.11e-03 | 4.61e-02 | 19 |
| GO:00508087 | Prostate | BPH | synapse organization | 103/3107 | 426/18723 | 3.19e-05 | 3.61e-04 | 103 |
| GO:005080813 | Prostate | Tumor | synapse organization | 105/3246 | 426/18723 | 7.20e-05 | 7.62e-04 | 105 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa040104 | Lung | AAH | MAPK signaling pathway | 27/348 | 302/8465 | 1.13e-04 | 6.32e-03 | 5.08e-03 | 27 |
| hsa049214 | Lung | AAH | Oxytocin signaling pathway | 17/348 | 154/8465 | 1.87e-04 | 8.70e-03 | 6.99e-03 | 17 |
| hsa040105 | Lung | AAH | MAPK signaling pathway | 27/348 | 302/8465 | 1.13e-04 | 6.32e-03 | 5.08e-03 | 27 |
| hsa049215 | Lung | AAH | Oxytocin signaling pathway | 17/348 | 154/8465 | 1.87e-04 | 8.70e-03 | 6.99e-03 | 17 |
| hsa049216 | Lung | MIAC | Oxytocin signaling pathway | 22/507 | 154/8465 | 1.18e-04 | 3.11e-03 | 2.25e-03 | 22 |
| hsa054124 | Lung | MIAC | Arrhythmogenic right ventricular cardiomyopathy | 14/507 | 77/8465 | 1.63e-04 | 3.51e-03 | 2.54e-03 | 14 |
| hsa040106 | Lung | MIAC | MAPK signaling pathway | 32/507 | 302/8465 | 1.12e-03 | 1.36e-02 | 9.81e-03 | 32 |
| hsa049217 | Lung | MIAC | Oxytocin signaling pathway | 22/507 | 154/8465 | 1.18e-04 | 3.11e-03 | 2.25e-03 | 22 |
| hsa054125 | Lung | MIAC | Arrhythmogenic right ventricular cardiomyopathy | 14/507 | 77/8465 | 1.63e-04 | 3.51e-03 | 2.54e-03 | 14 |
| hsa040107 | Lung | MIAC | MAPK signaling pathway | 32/507 | 302/8465 | 1.12e-03 | 1.36e-02 | 9.81e-03 | 32 |
| hsa0401010 | Prostate | BPH | MAPK signaling pathway | 87/1718 | 302/8465 | 2.05e-04 | 1.13e-03 | 6.98e-04 | 87 |
| hsa0401013 | Prostate | BPH | MAPK signaling pathway | 87/1718 | 302/8465 | 2.05e-04 | 1.13e-03 | 6.98e-04 | 87 |
| hsa0401022 | Prostate | Tumor | MAPK signaling pathway | 87/1791 | 302/8465 | 8.46e-04 | 3.94e-03 | 2.45e-03 | 87 |
| hsa0426025 | Prostate | Tumor | Cardiac muscle contraction | 28/1791 | 87/8465 | 1.06e-02 | 3.33e-02 | 2.07e-02 | 28 |
| hsa0401032 | Prostate | Tumor | MAPK signaling pathway | 87/1791 | 302/8465 | 8.46e-04 | 3.94e-03 | 2.45e-03 | 87 |
| hsa0426034 | Prostate | Tumor | Cardiac muscle contraction | 28/1791 | 87/8465 | 1.06e-02 | 3.33e-02 | 2.07e-02 | 28 |
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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 |
| CACNB4 | SNV | Missense_Mutation | c.883N>A | p.Glu295Lys | p.E295K | O00305 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CACNB4 | SNV | Missense_Mutation | novel | c.1534N>C | p.Tyr512His | p.Y512H | O00305 | protein_coding | tolerated_low_confidence(0.48) | possibly_damaging(0.726) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CACNB4 | deletion | Frame_Shift_Del | c.988delN | p.Ile330LeufsTer5 | p.I330Lfs*5 | O00305 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | |||
| CACNB4 | SNV | Missense_Mutation | c.659N>A | p.Arg220His | p.R220H | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
| CACNB4 | SNV | Missense_Mutation | novel | c.873N>C | p.Glu291Asp | p.E291D | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.942) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| CACNB4 | SNV | Missense_Mutation | novel | c.828N>C | p.Lys276Asn | p.K276N | O00305 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| CACNB4 | SNV | Missense_Mutation | c.122N>T | p.Thr41Ile | p.T41I | O00305 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.969) | TCGA-FU-A3EO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| CACNB4 | SNV | Missense_Mutation | c.1186N>C | p.Glu396Gln | p.E396Q | O00305 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
| CACNB4 | SNV | Missense_Mutation | rs751883436 | c.325N>A | p.Glu109Lys | p.E109K | O00305 | protein_coding | deleterious(0.03) | probably_damaging(0.97) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| CACNB4 | SNV | Missense_Mutation | c.659N>A | p.Arg220His | p.R220H | O00305 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A6-6649-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | 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 |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | VERAPAMIL | VERAPAMIL | ||
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL1059 | PREGABALIN | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | SAFINAMIDE | SAFINAMIDE | ||
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL1628502 | GABAPENTIN ENACARBIL | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL940 | GABAPENTIN | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL593430 | ATAGABALIN | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200382 | BEPRIDIL HYDROCHLORIDE | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | modulator | CHEMBL2103836 | IMAGABALIN | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | celecoxib | CELECOXIB | 22336956 | |
| 785 | CACNB4 | DRUGGABLE GENOME, ION CHANNEL | ARVERAPAMIL |
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