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Gene: SCNN1B |
Gene summary for SCNN1B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SCNN1B | Gene ID | 6338 |
| Gene name | sodium channel epithelial 1 subunit beta | |
| Gene Alias | BESC1 | |
| Cytomap | 16p12.2 | |
| Gene Type | protein-coding | GO ID | GO:0001775 | UniProtAcc | B2R812 |
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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 |
| 6338 | SCNN1B | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.91e-24 | -6.37e-01 | 0.0155 |
| 6338 | SCNN1B | HTA11_2951_2000001011 | Human | Colorectum | AD | 2.48e-03 | -6.43e-01 | 0.0216 |
| 6338 | SCNN1B | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.92e-05 | -5.41e-01 | -0.0811 |
| 6338 | SCNN1B | HTA11_78_2000001011 | Human | Colorectum | AD | 1.31e-04 | -4.60e-01 | -0.1088 |
| 6338 | SCNN1B | HTA11_83_2000001011 | Human | Colorectum | SER | 2.38e-02 | -4.94e-01 | -0.1526 |
| 6338 | SCNN1B | HTA11_866_2000001011 | Human | Colorectum | AD | 1.34e-02 | -3.53e-01 | -0.1001 |
| 6338 | SCNN1B | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.59e-07 | -4.74e-01 | -0.059 |
| 6338 | SCNN1B | HTA11_7862_2000001011 | Human | Colorectum | AD | 4.78e-07 | -6.43e-01 | -0.0179 |
| 6338 | SCNN1B | HTA11_866_3004761011 | Human | Colorectum | AD | 4.84e-24 | -6.43e-01 | 0.096 |
| 6338 | SCNN1B | HTA11_8622_2000001021 | Human | Colorectum | SER | 8.44e-06 | -6.43e-01 | 0.0528 |
| 6338 | SCNN1B | HTA11_10623_2000001011 | Human | Colorectum | AD | 6.57e-03 | -5.78e-01 | -0.0177 |
| 6338 | SCNN1B | HTA11_10711_2000001011 | Human | Colorectum | AD | 4.47e-15 | -6.43e-01 | 0.0338 |
| 6338 | SCNN1B | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.57e-18 | -6.06e-01 | 0.0674 |
| 6338 | SCNN1B | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.30e-02 | -5.59e-01 | 0.0112 |
| 6338 | SCNN1B | HTA11_6818_2000001021 | Human | Colorectum | AD | 8.82e-07 | -5.88e-01 | 0.0588 |
| 6338 | SCNN1B | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.39e-20 | -6.16e-01 | 0.294 |
| 6338 | SCNN1B | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.68e-09 | -6.17e-01 | 0.281 |
| 6338 | SCNN1B | HTA11_99999971662_82457 | Human | Colorectum | MSS | 6.56e-26 | -6.35e-01 | 0.3859 |
| 6338 | SCNN1B | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.09e-09 | -6.43e-01 | 0.2585 |
| 6338 | SCNN1B | HTA11_99999974143_84620 | Human | Colorectum | MSS | 1.06e-23 | -6.34e-01 | 0.3005 |
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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 | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:00517029 | Oral cavity | OSCC | biological process involved in interaction with symbiont | 54/7305 | 94/18723 | 2.20e-04 | 1.44e-03 | 54 |
| GO:005087819 | Oral cavity | OSCC | regulation of body fluid levels | 179/7305 | 379/18723 | 6.19e-04 | 3.50e-03 | 179 |
| GO:003196018 | Oral cavity | OSCC | response to corticosteroid | 86/7305 | 167/18723 | 6.79e-04 | 3.79e-03 | 86 |
| GO:00060817 | Oral cavity | OSCC | cellular aldehyde metabolic process | 36/7305 | 60/18723 | 7.94e-04 | 4.27e-03 | 36 |
| GO:0036230 | Oral cavity | OSCC | granulocyte activation | 26/7305 | 43/18723 | 3.55e-03 | 1.49e-02 | 26 |
| GO:0042119 | Oral cavity | OSCC | neutrophil activation | 22/7305 | 36/18723 | 5.96e-03 | 2.27e-02 | 22 |
| GO:00702543 | Oral cavity | OSCC | mucus secretion | 10/7305 | 13/18723 | 6.32e-03 | 2.35e-02 | 10 |
| GO:01100967 | Oral cavity | OSCC | cellular response to aldehyde | 10/7305 | 13/18723 | 6.32e-03 | 2.35e-02 | 10 |
| GO:00082024 | Oral cavity | OSCC | steroid metabolic process | 146/7305 | 319/18723 | 7.78e-03 | 2.85e-02 | 146 |
| GO:00352646 | Oral cavity | OSCC | multicellular organism growth | 65/7305 | 132/18723 | 1.06e-02 | 3.60e-02 | 65 |
| GO:00713848 | Oral cavity | OSCC | cellular response to corticosteroid stimulus | 33/7305 | 61/18723 | 1.19e-02 | 4.02e-02 | 33 |
| GO:00024441 | Oral cavity | OSCC | myeloid leukocyte mediated immunity | 50/7305 | 99/18723 | 1.31e-02 | 4.34e-02 | 50 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa04960 | Colorectum | FAP | Aldosterone-regulated sodium reabsorption | 13/1404 | 37/8465 | 4.79e-03 | 1.91e-02 | 1.16e-02 | 13 |
| hsa049601 | Colorectum | FAP | Aldosterone-regulated sodium reabsorption | 13/1404 | 37/8465 | 4.79e-03 | 1.91e-02 | 1.16e-02 | 13 |
| hsa049602 | Colorectum | CRC | Aldosterone-regulated sodium reabsorption | 12/1091 | 37/8465 | 1.66e-03 | 1.20e-02 | 8.16e-03 | 12 |
| hsa049603 | Colorectum | CRC | Aldosterone-regulated sodium reabsorption | 12/1091 | 37/8465 | 1.66e-03 | 1.20e-02 | 8.16e-03 | 12 |
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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 |
| SCNN1B | SNV | Missense_Mutation | rs72654326 | c.775C>T | p.Arg259Trp | p.R259W | P51168 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-BH-A0DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| SCNN1B | SNV | Missense_Mutation | c.1604T>G | p.Leu535Arg | p.L535R | P51168 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SCNN1B | SNV | Missense_Mutation | c.1391N>T | p.Ser464Phe | p.S464F | P51168 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-BH-A18P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| SCNN1B | SNV | Missense_Mutation | rs370777535 | c.91G>A | p.Asp31Asn | p.D31N | P51168 | protein_coding | tolerated(0.9) | benign(0.029) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
| SCNN1B | insertion | Frame_Shift_Ins | novel | c.1271_1272insAATACTGCAACAACCGGGACTT | p.His425IlefsTer33 | p.H425Ifs*33 | P51168 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| SCNN1B | SNV | Missense_Mutation | rs368632136 | c.562G>A | p.Gly188Arg | p.G188R | P51168 | protein_coding | tolerated(0.5) | benign(0.012) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| SCNN1B | SNV | Missense_Mutation | c.632C>T | p.Ala211Val | p.A211V | P51168 | protein_coding | deleterious(0.02) | probably_damaging(0.957) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |
| SCNN1B | SNV | Missense_Mutation | c.1304N>T | p.Ala435Val | p.A435V | P51168 | protein_coding | tolerated(0.34) | benign(0.007) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
| SCNN1B | SNV | Missense_Mutation | rs751021743 | c.1457N>T | p.Thr486Ile | p.T486I | P51168 | protein_coding | tolerated(0.07) | probably_damaging(0.999) | TCGA-AA-3930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | capecitabine | PD |
| SCNN1B | SNV | Missense_Mutation | rs776860505 | c.1472N>A | p.Gly491Glu | p.G491E | P51168 | protein_coding | deleterious(0.02) | probably_damaging(0.991) | TCGA-AA-A01I-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | 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 |
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | TRIAMTERENE | TRIAMTERENE | ||
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | AMILORIDE | AMILORIDE | ||
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | triamterene | TRIAMTERENE | 23788015 | |
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | amiloride | AMILORIDE | 23788015 | |
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | P-552 | |||
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | blocker | CHEMBL1398126 | AMILORIDE HYDROCHLORIDE | |
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | Farglitazar | FARGLITAZAR | 18004211 | |
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | AMILORIDE | AMILORIDE | ||
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | GS-9411 | |||
| 6338 | SCNN1B | DRUGGABLE GENOME, ION CHANNEL, EXTERNAL SIDE OF PLASMA MEMBRANE | blocker | CHEMBL3545352 | P-1037 |
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