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Gene: SCN1A |
Gene summary for SCN1A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SCN1A | Gene ID | 6323 |
| Gene name | sodium voltage-gated channel alpha subunit 1 | |
| Gene Alias | DEE6 | |
| Cytomap | 2q24.3 | |
| Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | P35498 |
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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 |
| 6323 | SCN1A | RNA-P10T2-P10T2-1 | Human | Lung | AAH | 7.47e-04 | 1.04e+00 | -0.1271 |
| 6323 | SCN1A | RNA-P10T2-P10T2-2 | Human | Lung | AAH | 4.14e-04 | 9.65e-01 | -0.1406 |
| 6323 | SCN1A | RNA-P10T2-P10T2-3 | Human | Lung | AAH | 1.34e-03 | 9.21e-01 | -0.1408 |
| 6323 | SCN1A | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 8.78e-16 | 9.56e-01 | -0.2116 |
| 6323 | SCN1A | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 5.16e-14 | 1.12e+00 | -0.1941 |
| 6323 | SCN1A | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 3.17e-11 | 1.02e+00 | -0.2107 |
| 6323 | SCN1A | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 1.03e-20 | 1.07e+00 | -0.2119 |
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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 |
| ∗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:003004812 | Lung | AIS | actin filament-based movement | 25/1849 | 127/18723 | 5.99e-04 | 9.14e-03 | 25 |
| GO:008600111 | Lung | AIS | cardiac muscle cell action potential | 16/1849 | 76/18723 | 2.70e-03 | 2.72e-02 | 16 |
| GO:000301211 | Lung | AIS | muscle system process | 63/1849 | 452/18723 | 3.18e-03 | 3.05e-02 | 63 |
| GO:003004822 | Lung | AAH | actin filament-based movement | 12/613 | 127/18723 | 9.53e-04 | 2.94e-02 | 12 |
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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 |
| Page: 1 |
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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 |
| SCN1A | SNV | Missense_Mutation | novel | c.4276C>T | p.Leu1426Phe | p.L1426F | P35498 | protein_coding | tolerated(0.06) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
| SCN1A | SNV | Missense_Mutation | c.3968C>A | p.Pro1323His | p.P1323H | P35498 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| SCN1A | SNV | Missense_Mutation | novel | c.1808G>T | p.Ser603Ile | p.S603I | P35498 | protein_coding | tolerated(0.07) | possibly_damaging(0.549) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| SCN1A | SNV | Missense_Mutation | c.2396T>C | p.Val799Ala | p.V799A | P35498 | protein_coding | deleterious(0.05) | benign(0.097) | TCGA-B5-A0JR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SCN1A | SNV | Missense_Mutation | c.1224N>A | p.Phe408Leu | p.F408L | P35498 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| SCN1A | SNV | Missense_Mutation | rs121917921 | c.5348C>T | p.Ala1783Val | p.A1783V | P35498 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-B5-A0K6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SCN1A | SNV | Missense_Mutation | novel | c.1252N>G | p.Ile418Val | p.I418V | P35498 | protein_coding | deleterious(0.01) | probably_damaging(0.981) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SCN1A | SNV | Missense_Mutation | c.1927A>G | p.Ser643Gly | p.S643G | P35498 | protein_coding | tolerated(0.07) | benign(0.079) | TCGA-B5-A11H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD | |
| SCN1A | SNV | Missense_Mutation | c.4451N>G | p.Asp1484Gly | p.D1484G | P35498 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SCN1A | SNV | Missense_Mutation | c.1481N>T | p.Ala494Val | p.A494V | P35498 | protein_coding | tolerated(0.09) | probably_damaging(0.998) | TCGA-B5-A11O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 |
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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 |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | levetiracetam | LEVETIRACETAM | 23859570,21747585,28753467,25155934 | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | ZONISAMIDE | ZONISAMIDE | ||
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1201754 | RUFINAMIDE | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | 135652715 | SAXITOXIN | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200586 | PRILOCAINE HYDROCHLORIDE | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL861 | MEPHENYTOIN | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | inhibitor | 135651976 | ||
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | 135652722 | TETRODOTOXIN | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | phenytoin | PHENYTOIN | 17001291 | |
| 6323 | SCN1A | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL3545209 | NKTR-171 |
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