Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Becker/SCNN1B_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Colorectum/Chen/SCNN1B_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/SCNN1B_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/OralCavity/SCNN1B_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0044403 | Colorectum | AD | biological process involved in symbiotic interaction | 99/3918 | 290/18723 | 1.02e-07 | 4.93e-06 | 99 |
GO:0071383 | Colorectum | AD | cellular response to steroid hormone stimulus | 73/3918 | 204/18723 | 6.31e-07 | 2.24e-05 | 73 |
GO:0034101 | Colorectum | AD | erythrocyte homeostasis | 51/3918 | 129/18723 | 1.07e-06 | 3.59e-05 | 51 |
GO:0002262 | Colorectum | AD | myeloid cell homeostasis | 57/3918 | 157/18723 | 6.17e-06 | 1.56e-04 | 57 |
GO:0048872 | Colorectum | AD | homeostasis of number of cells | 87/3918 | 272/18723 | 1.16e-05 | 2.61e-04 | 87 |
GO:0031667 | Colorectum | AD | response to nutrient levels | 138/3918 | 474/18723 | 1.22e-05 | 2.68e-04 | 138 |
GO:0048545 | Colorectum | AD | response to steroid hormone | 104/3918 | 339/18723 | 1.33e-05 | 2.90e-04 | 104 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0009410 | Colorectum | AD | response to xenobiotic stimulus | 128/3918 | 462/18723 | 2.69e-04 | 3.31e-03 | 128 |
GO:0007589 | Colorectum | AD | body fluid secretion | 33/3918 | 93/18723 | 8.26e-04 | 8.13e-03 | 33 |
GO:1901654 | Colorectum | AD | response to ketone | 59/3918 | 194/18723 | 1.14e-03 | 1.04e-02 | 59 |
GO:0034308 | Colorectum | AD | primary alcohol metabolic process | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:0006081 | Colorectum | AD | cellular aldehyde metabolic process | 22/3918 | 60/18723 | 3.64e-03 | 2.60e-02 | 22 |
GO:0097305 | Colorectum | AD | response to alcohol | 71/3918 | 253/18723 | 4.01e-03 | 2.80e-02 | 71 |
GO:0055067 | Colorectum | AD | monovalent inorganic cation homeostasis | 45/3918 | 151/18723 | 6.19e-03 | 3.88e-02 | 45 |
GO:0008202 | Colorectum | AD | steroid metabolic process | 85/3918 | 319/18723 | 8.07e-03 | 4.75e-02 | 85 |
GO:00713831 | Colorectum | SER | cellular response to steroid hormone stimulus | 55/2897 | 204/18723 | 1.66e-05 | 5.05e-04 | 55 |
GO:00341011 | Colorectum | SER | erythrocyte homeostasis | 39/2897 | 129/18723 | 1.70e-05 | 5.11e-04 | 39 |
GO:00444031 | Colorectum | SER | biological process involved in symbiotic interaction | 72/2897 | 290/18723 | 2.08e-05 | 6.02e-04 | 72 |
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 | rs201575688 | c.1163G>A | p.Arg388His | p.R388H | P51168 | protein_coding | tolerated(0.82) | benign(0.007) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | rs112069765 | c.1636G>A | p.Asp546Asn | p.D546N | P51168 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | novel | c.764N>T | p.Pro255Leu | p.P255L | P51168 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | rs376401500 | c.38N>A | p.Arg13Gln | p.R13Q | P51168 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | novel | c.374N>T | p.Arg125Ile | p.R125I | P51168 | protein_coding | deleterious(0.02) | possibly_damaging(0.642) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | rs757755874 | c.724G>A | p.Gly242Ser | p.G242S | P51168 | protein_coding | deleterious(0.05) | benign(0.137) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SCNN1B | SNV | Missense_Mutation | novel | c.475C>A | p.His159Asn | p.H159N | P51168 | protein_coding | tolerated(0.63) | benign(0.039) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
SCNN1B | insertion | Frame_Shift_Ins | novel | c.1847dupC | p.Pro617AlafsTer5 | p.P617Afs*5 | P51168 | protein_coding | | | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SCNN1B | SNV | Missense_Mutation | novel | c.353N>A | p.Leu118Gln | p.L118Q | P51168 | protein_coding | tolerated(0.26) | probably_damaging(1) | TCGA-CC-A8HS-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
SCNN1B | SNV | Missense_Mutation | | c.961C>G | p.His321Asp | p.H321D | P51168 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-44-3398-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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 | |