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Gene: DFNA5 |
Gene summary for DFNA5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DFNA5 | Gene ID | 1687 |
| Gene name | gasdermin E | |
| Gene Alias | DFNA5 | |
| Cytomap | 7p15.3 | |
| Gene Type | protein-coding | GO ID | GO:0000165 | UniProtAcc | A0A024RA58 |
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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 |
| 1687 | DFNA5 | P2T-E | Human | Esophagus | ESCC | 3.19e-09 | 2.27e-01 | 0.1177 |
| 1687 | DFNA5 | P4T-E | Human | Esophagus | ESCC | 1.56e-02 | 1.15e-01 | 0.1323 |
| 1687 | DFNA5 | P10T-E | Human | Esophagus | ESCC | 1.24e-12 | 2.60e-01 | 0.116 |
| 1687 | DFNA5 | P11T-E | Human | Esophagus | ESCC | 8.70e-26 | 1.16e+00 | 0.1426 |
| 1687 | DFNA5 | P12T-E | Human | Esophagus | ESCC | 8.97e-05 | 1.10e-01 | 0.1122 |
| 1687 | DFNA5 | P15T-E | Human | Esophagus | ESCC | 3.50e-03 | 1.50e-01 | 0.1149 |
| 1687 | DFNA5 | P16T-E | Human | Esophagus | ESCC | 8.54e-11 | 1.64e-01 | 0.1153 |
| 1687 | DFNA5 | P17T-E | Human | Esophagus | ESCC | 6.33e-15 | 6.73e-01 | 0.1278 |
| 1687 | DFNA5 | P19T-E | Human | Esophagus | ESCC | 2.25e-08 | 1.14e+00 | 0.1662 |
| 1687 | DFNA5 | P20T-E | Human | Esophagus | ESCC | 7.99e-08 | 1.73e-01 | 0.1124 |
| 1687 | DFNA5 | P21T-E | Human | Esophagus | ESCC | 4.45e-33 | 6.87e-01 | 0.1617 |
| 1687 | DFNA5 | P22T-E | Human | Esophagus | ESCC | 3.19e-19 | 3.83e-01 | 0.1236 |
| 1687 | DFNA5 | P24T-E | Human | Esophagus | ESCC | 4.07e-11 | 3.22e-01 | 0.1287 |
| 1687 | DFNA5 | P26T-E | Human | Esophagus | ESCC | 1.12e-08 | 1.90e-01 | 0.1276 |
| 1687 | DFNA5 | P27T-E | Human | Esophagus | ESCC | 7.38e-21 | 3.17e-01 | 0.1055 |
| 1687 | DFNA5 | P28T-E | Human | Esophagus | ESCC | 9.55e-03 | 7.84e-02 | 0.1149 |
| 1687 | DFNA5 | P30T-E | Human | Esophagus | ESCC | 2.60e-07 | 3.50e-01 | 0.137 |
| 1687 | DFNA5 | P31T-E | Human | Esophagus | ESCC | 2.72e-04 | 1.23e-01 | 0.1251 |
| 1687 | DFNA5 | P32T-E | Human | Esophagus | ESCC | 3.79e-18 | 4.41e-01 | 0.1666 |
| 1687 | DFNA5 | P36T-E | Human | Esophagus | ESCC | 3.24e-10 | 3.56e-01 | 0.1187 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| DFNA5 | SNV | Missense_Mutation | novel | c.338N>A | p.Ser113Tyr | p.S113Y | O60443 | protein_coding | tolerated(0.07) | probably_damaging(0.973) | TCGA-A7-A0CG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| DFNA5 | SNV | Missense_Mutation | c.352C>A | p.Leu118Met | p.L118M | O60443 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DFNA5 | SNV | Missense_Mutation | novel | c.40N>T | p.Asp14Tyr | p.D14Y | O60443 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1XA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DFNA5 | SNV | Missense_Mutation | c.799N>C | p.Asp267His | p.D267H | O60443 | protein_coding | tolerated(0.28) | benign(0.22) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| DFNA5 | insertion | Frame_Shift_Ins | novel | c.335_336insTCCCCCTACCACTCTCCCACTACCCTTCCCAGCCTCTG | p.Gln112HisfsTer20 | p.Q112Hfs*20 | O60443 | protein_coding | TCGA-A7-A0CG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| DFNA5 | insertion | Frame_Shift_Ins | novel | c.632_633insATTAATAGCATTATCATCATTATTGTTA | p.Pro212LeufsTer21 | p.P212Lfs*21 | O60443 | protein_coding | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| DFNA5 | deletion | In_Frame_Del | novel | c.904_921delCTGCCTGAGCCACAACAG | p.Leu302_Gln307del | p.L302_Q307del | O60443 | protein_coding | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | ||
| DFNA5 | SNV | Missense_Mutation | c.53A>T | p.Asp18Val | p.D18V | O60443 | protein_coding | deleterious(0) | possibly_damaging(0.761) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DFNA5 | SNV | Missense_Mutation | c.1406N>A | p.Val469Asp | p.V469D | O60443 | protein_coding | deleterious(0) | benign(0.335) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| DFNA5 | SNV | Missense_Mutation | rs768736799 | c.217G>A | p.Val73Met | p.V73M | O60443 | protein_coding | deleterious(0.02) | possibly_damaging(0.905) | TCGA-AA-3982-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | 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 |
| Page: 1 |
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