|
|||||
|
 | |
| |
| |
| |
| |
| |
|
Gene: SCNN1A |
Gene summary for SCNN1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SCNN1A | Gene ID | 6337 |
| Gene name | sodium channel epithelial 1 subunit alpha | |
| Gene Alias | BESC2 | |
| Cytomap | 12p13.31 | |
| Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | P37088 |
Top |
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 |
| 6337 | SCNN1A | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.05e-02 | 1.49e-01 | 0.0155 |
| 6337 | SCNN1A | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.46e-09 | 7.93e-01 | -0.1808 |
| 6337 | SCNN1A | HTA11_411_2000001011 | Human | Colorectum | SER | 6.50e-10 | 1.84e+00 | -0.2602 |
| 6337 | SCNN1A | HTA11_2112_2000001011 | Human | Colorectum | SER | 4.66e-06 | 1.20e+00 | -0.2196 |
| 6337 | SCNN1A | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.64e-06 | 7.15e-01 | -0.1207 |
| 6337 | SCNN1A | HTA11_696_2000001011 | Human | Colorectum | AD | 1.65e-20 | 8.70e-01 | -0.1464 |
| 6337 | SCNN1A | HTA11_866_2000001011 | Human | Colorectum | AD | 1.82e-06 | 5.56e-01 | -0.1001 |
| 6337 | SCNN1A | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.23e-04 | 5.17e-01 | -0.059 |
| 6337 | SCNN1A | HTA11_5212_2000001011 | Human | Colorectum | AD | 7.69e-12 | 1.25e+00 | -0.2061 |
| 6337 | SCNN1A | HTA11_866_3004761011 | Human | Colorectum | AD | 3.49e-07 | 5.20e-01 | 0.096 |
| 6337 | SCNN1A | HTA11_10711_2000001011 | Human | Colorectum | AD | 8.33e-03 | 3.70e-01 | 0.0338 |
| 6337 | SCNN1A | HTA11_7696_3000711011 | Human | Colorectum | AD | 8.48e-07 | 4.62e-01 | 0.0674 |
| 6337 | SCNN1A | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.04e-11 | 5.25e-01 | 0.294 |
| 6337 | SCNN1A | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 1.86e-20 | 2.11e+00 | 0.3487 |
| 6337 | SCNN1A | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.42e-05 | 4.74e-01 | 0.281 |
| 6337 | SCNN1A | HTA11_99999971662_82457 | Human | Colorectum | MSS | 8.30e-16 | 8.43e-01 | 0.3859 |
| 6337 | SCNN1A | A015-C-203 | Human | Colorectum | FAP | 7.55e-08 | 1.63e-01 | -0.1294 |
| 6337 | SCNN1A | A002-C-201 | Human | Colorectum | FAP | 1.02e-02 | 2.36e-01 | 0.0324 |
| 6337 | SCNN1A | A001-C-119 | Human | Colorectum | FAP | 3.21e-04 | 4.51e-01 | -0.1557 |
| 6337 | SCNN1A | A001-C-108 | Human | Colorectum | FAP | 2.49e-02 | 1.22e-01 | -0.0272 |
| Page: 1 2 3 4 5 |
| 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 | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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. |
Top |
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:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
| GO:0055067 | Colorectum | AD | monovalent inorganic cation homeostasis | 45/3918 | 151/18723 | 6.19e-03 | 3.88e-02 | 45 |
| GO:00508781 | Colorectum | SER | regulation of body fluid levels | 81/2897 | 379/18723 | 1.28e-03 | 1.43e-02 | 81 |
| GO:00550671 | Colorectum | SER | monovalent inorganic cation homeostasis | 37/2897 | 151/18723 | 2.48e-03 | 2.33e-02 | 37 |
| GO:00508782 | Colorectum | MSS | regulation of body fluid levels | 99/3467 | 379/18723 | 1.40e-04 | 2.07e-03 | 99 |
| GO:00508783 | Colorectum | MSI-H | regulation of body fluid levels | 41/1319 | 379/18723 | 4.10e-03 | 4.67e-02 | 41 |
| GO:0035725 | Colorectum | FAP | sodium ion transmembrane transport | 44/2622 | 178/18723 | 9.31e-05 | 1.60e-03 | 44 |
| GO:00508784 | Colorectum | FAP | regulation of body fluid levels | 79/2622 | 379/18723 | 1.52e-04 | 2.35e-03 | 79 |
| GO:0006814 | Colorectum | FAP | sodium ion transport | 54/2622 | 245/18723 | 3.98e-04 | 4.85e-03 | 54 |
| GO:00550672 | Colorectum | FAP | monovalent inorganic cation homeostasis | 35/2622 | 151/18723 | 1.58e-03 | 1.40e-02 | 35 |
| GO:00357251 | Colorectum | CRC | sodium ion transmembrane transport | 39/2078 | 178/18723 | 2.30e-05 | 6.60e-04 | 39 |
| GO:00068141 | Colorectum | CRC | sodium ion transport | 49/2078 | 245/18723 | 3.01e-05 | 7.86e-04 | 49 |
| GO:00508785 | Colorectum | CRC | regulation of body fluid levels | 65/2078 | 379/18723 | 2.38e-04 | 3.96e-03 | 65 |
| GO:005087822 | Liver | HCC | regulation of body fluid levels | 191/7958 | 379/18723 | 1.06e-03 | 6.11e-03 | 191 |
| GO:005087819 | Oral cavity | OSCC | regulation of body fluid levels | 179/7305 | 379/18723 | 6.19e-04 | 3.50e-03 | 179 |
| GO:005087818 | Prostate | Tumor | regulation of body fluid levels | 91/3246 | 379/18723 | 5.37e-04 | 3.91e-03 | 91 |
| GO:0050878112 | Thyroid | ATC | regulation of body fluid levels | 149/6293 | 379/18723 | 1.08e-02 | 3.90e-02 | 149 |
| Page: 1 |
| 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 |
| Page: 1 |
Top |
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 |
| Page: 1 |
Top |
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 |
Top |
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 |
| SCNN1A | SNV | Missense_Mutation | c.1637N>G | p.Ser546Cys | p.S546C | P37088 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| SCNN1A | SNV | Missense_Mutation | c.344N>A | p.Arg115Gln | p.R115Q | P37088 | protein_coding | tolerated(0.18) | benign(0.329) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| SCNN1A | SNV | Missense_Mutation | c.2009N>T | p.Ser670Phe | p.S670F | P37088 | protein_coding | deleterious(0) | possibly_damaging(0.66) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SCNN1A | SNV | Missense_Mutation | rs779507200 | c.1019N>T | p.Ala340Val | p.A340V | P37088 | protein_coding | deleterious(0) | benign(0.373) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
| SCNN1A | insertion | In_Frame_Ins | novel | c.475_476insTATGGAGAAAGCAAAGAGGGGGATCGTGGAGGTTAG | p.Trp159delinsLeuTrpArgLysGlnArgGlyGlySerTrpArgLeuGly | p.W159delinsLWRKQRGGSWRLG | P37088 | protein_coding | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| SCNN1A | SNV | Missense_Mutation | novel | c.2092N>A | p.Ala698Thr | p.A698T | P37088 | protein_coding | tolerated_low_confidence(0.19) | benign(0.135) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| SCNN1A | SNV | Missense_Mutation | rs755217190 | c.1076N>T | p.Pro359Leu | p.P359L | P37088 | protein_coding | deleterious(0.01) | possibly_damaging(0.844) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| SCNN1A | SNV | Missense_Mutation | c.1301N>A | p.Thr434Asn | p.T434N | P37088 | protein_coding | deleterious(0.02) | possibly_damaging(0.477) | TCGA-C5-A2LX-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
| SCNN1A | SNV | Missense_Mutation | c.2023C>T | p.His675Tyr | p.H675Y | P37088 | protein_coding | tolerated(0.68) | benign(0.253) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| SCNN1A | SNV | Missense_Mutation | c.613N>C | p.Glu205Gln | p.E205Q | P37088 | protein_coding | tolerated(0.28) | benign(0.012) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 |
Top |
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 |
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | triamterene | TRIAMTERENE | 23788015 | |
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL585 | TRIAMTERENE | |
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | TRIAMTERENE | TRIAMTERENE | ||
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | GS-9411 | |||
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | AMILORIDE | AMILORIDE | ||
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | AMILORIDE | AMILORIDE | ||
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | amiloride | AMILORIDE | 23788015 | |
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1398126 | AMILORIDE HYDROCHLORIDE | |
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | P-552 | |||
| 6337 | SCNN1A | DRUGGABLE GENOME, ION CHANNEL | TRIAMTERENE | TRIAMTERENE |
| Page: 1 2 |
Copyright 2023-Present -The University of Texas Health Science Center at Houston |