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Gene: DFNA5 |
Gene summary for DFNA5 |
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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 |
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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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∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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.400N>A | p.Glu134Lys | p.E134K | O60443 | protein_coding | tolerated(0.1) | benign(0.007) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
DFNA5 | SNV | Missense_Mutation | rs188664289 | c.143N>T | p.Arg48Ile | p.R48I | O60443 | protein_coding | deleterious(0) | possibly_damaging(0.708) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DFNA5 | SNV | Missense_Mutation | rs778242350 | c.733N>A | p.Glu245Lys | p.E245K | O60443 | protein_coding | deleterious(0.01) | probably_damaging(0.918) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DFNA5 | SNV | Missense_Mutation | c.1136N>A | p.Ser379Asn | p.S379N | O60443 | protein_coding | tolerated(0.5) | benign(0) | TCGA-EY-A5W2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
DFNA5 | SNV | Missense_Mutation | novel | c.522N>A | p.Met174Ile | p.M174I | O60443 | protein_coding | tolerated(0.98) | benign(0) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DFNA5 | SNV | Missense_Mutation | c.815C>G | p.Ala272Gly | p.A272G | O60443 | protein_coding | tolerated(0.51) | benign(0) | TCGA-DD-A39X-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
DFNA5 | SNV | Missense_Mutation | rs761265129 | c.520N>G | p.Met174Val | p.M174V | O60443 | protein_coding | tolerated(1) | benign(0) | TCGA-FV-A3I1-01 | Liver | liver hepatocellular carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DFNA5 | SNV | Missense_Mutation | rs778242350 | c.733N>A | p.Glu245Lys | p.E245K | O60443 | protein_coding | deleterious(0.01) | probably_damaging(0.918) | TCGA-49-6761-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DFNA5 | SNV | Missense_Mutation | novel | c.827C>G | p.Ser276Cys | p.S276C | O60443 | protein_coding | tolerated(0.05) | possibly_damaging(0.732) | TCGA-55-7913-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
DFNA5 | SNV | Missense_Mutation | c.1313N>A | p.Pro438His | p.P438H | O60443 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-55-8208-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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