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Gene: DEF8 |
Gene summary for DEF8 |
Gene summary. |
Gene information | Species | Human | Gene symbol | DEF8 | Gene ID | 54849 |
Gene name | differentially expressed in FDCP 8 homolog | |
Gene Alias | DEF8 | |
Cytomap | 16q24.3 | |
Gene Type | protein-coding | GO ID | GO:0001894 | UniProtAcc | Q6ZN54 |
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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 |
54849 | DEF8 | LZE4T | Human | Esophagus | ESCC | 2.56e-14 | 3.59e-01 | 0.0811 |
54849 | DEF8 | LZE7T | Human | Esophagus | ESCC | 1.74e-20 | 6.67e-01 | 0.0667 |
54849 | DEF8 | LZE8T | Human | Esophagus | ESCC | 3.61e-03 | 2.04e-01 | 0.067 |
54849 | DEF8 | LZE20T | Human | Esophagus | ESCC | 3.74e-06 | 6.00e-02 | 0.0662 |
54849 | DEF8 | LZE22D1 | Human | Esophagus | HGIN | 3.88e-05 | 1.92e-01 | 0.0595 |
54849 | DEF8 | LZE22T | Human | Esophagus | ESCC | 9.16e-03 | 1.70e-01 | 0.068 |
54849 | DEF8 | LZE24T | Human | Esophagus | ESCC | 4.00e-21 | 2.16e-01 | 0.0596 |
54849 | DEF8 | LZE21T | Human | Esophagus | ESCC | 2.11e-05 | 3.47e-01 | 0.0655 |
54849 | DEF8 | LZE6T | Human | Esophagus | ESCC | 4.23e-03 | 1.22e-01 | 0.0845 |
54849 | DEF8 | P1T-E | Human | Esophagus | ESCC | 1.45e-13 | 3.81e-01 | 0.0875 |
54849 | DEF8 | P2T-E | Human | Esophagus | ESCC | 1.19e-22 | 3.88e-01 | 0.1177 |
54849 | DEF8 | P4T-E | Human | Esophagus | ESCC | 1.37e-23 | 6.00e-01 | 0.1323 |
54849 | DEF8 | P5T-E | Human | Esophagus | ESCC | 1.09e-22 | 4.61e-01 | 0.1327 |
54849 | DEF8 | P8T-E | Human | Esophagus | ESCC | 3.21e-19 | 3.86e-01 | 0.0889 |
54849 | DEF8 | P9T-E | Human | Esophagus | ESCC | 1.74e-14 | 2.56e-01 | 0.1131 |
54849 | DEF8 | P10T-E | Human | Esophagus | ESCC | 1.06e-17 | 2.28e-01 | 0.116 |
54849 | DEF8 | P11T-E | Human | Esophagus | ESCC | 2.08e-15 | 4.80e-01 | 0.1426 |
54849 | DEF8 | P12T-E | Human | Esophagus | ESCC | 1.85e-19 | 3.48e-01 | 0.1122 |
54849 | DEF8 | P15T-E | Human | Esophagus | ESCC | 8.65e-19 | 2.99e-01 | 0.1149 |
54849 | DEF8 | P16T-E | Human | Esophagus | ESCC | 9.42e-10 | 1.44e-01 | 0.1153 |
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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. |
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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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006049117 | Esophagus | HGIN | regulation of cell projection assembly | 39/2587 | 188/18723 | 5.61e-03 | 4.57e-02 | 39 |
GO:003134616 | Esophagus | ESCC | positive regulation of cell projection organization | 201/8552 | 353/18723 | 1.19e-05 | 1.11e-04 | 201 |
GO:00315299 | Esophagus | ESCC | ruffle organization | 39/8552 | 56/18723 | 2.44e-04 | 1.51e-03 | 39 |
GO:00971789 | Esophagus | ESCC | ruffle assembly | 32/8552 | 44/18723 | 2.50e-04 | 1.54e-03 | 32 |
GO:006049118 | Esophagus | ESCC | regulation of cell projection assembly | 110/8552 | 188/18723 | 2.60e-04 | 1.58e-03 | 110 |
GO:012003218 | Esophagus | ESCC | regulation of plasma membrane bounded cell projection assembly | 108/8552 | 186/18723 | 4.37e-04 | 2.46e-03 | 108 |
GO:01200347 | Esophagus | ESCC | positive regulation of plasma membrane bounded cell projection assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:19000277 | Esophagus | ESCC | regulation of ruffle assembly | 21/8552 | 31/18723 | 1.10e-02 | 3.70e-02 | 21 |
GO:00315294 | Liver | Cirrhotic | ruffle organization | 26/4634 | 56/18723 | 3.40e-04 | 2.91e-03 | 26 |
GO:00971783 | Liver | Cirrhotic | ruffle assembly | 21/4634 | 44/18723 | 7.88e-04 | 5.79e-03 | 21 |
GO:00487711 | Liver | Cirrhotic | tissue remodeling | 60/4634 | 175/18723 | 2.86e-03 | 1.65e-02 | 60 |
GO:01200326 | Liver | Cirrhotic | regulation of plasma membrane bounded cell projection assembly | 63/4634 | 186/18723 | 3.16e-03 | 1.78e-02 | 63 |
GO:19000273 | Liver | Cirrhotic | regulation of ruffle assembly | 15/4634 | 31/18723 | 3.68e-03 | 2.02e-02 | 15 |
GO:00604915 | Liver | Cirrhotic | regulation of cell projection assembly | 63/4634 | 188/18723 | 4.17e-03 | 2.22e-02 | 63 |
GO:003134611 | Liver | HCC | positive regulation of cell projection organization | 193/7958 | 353/18723 | 2.28e-06 | 3.08e-05 | 193 |
GO:006049112 | Liver | HCC | regulation of cell projection assembly | 101/7958 | 188/18723 | 1.20e-03 | 6.69e-03 | 101 |
GO:012003212 | Liver | HCC | regulation of plasma membrane bounded cell projection assembly | 100/7958 | 186/18723 | 1.23e-03 | 6.81e-03 | 100 |
GO:003152911 | Liver | HCC | ruffle organization | 34/7958 | 56/18723 | 4.54e-03 | 1.96e-02 | 34 |
GO:01200344 | Liver | HCC | positive regulation of plasma membrane bounded cell projection assembly | 58/7958 | 105/18723 | 5.66e-03 | 2.36e-02 | 58 |
GO:003134610 | Oral cavity | OSCC | positive regulation of cell projection organization | 176/7305 | 353/18723 | 1.94e-05 | 1.87e-04 | 176 |
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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 |
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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. |
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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 |
DEF8 | SNV | Missense_Mutation | novel | c.166N>A | p.Glu56Lys | p.E56K | Q6ZN54 | protein_coding | tolerated_low_confidence(0.28) | benign(0) | TCGA-CQ-A4CD-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DEF8 | SNV | Missense_Mutation | novel | c.1212N>C | p.Glu404Asp | p.E404D | Q6ZN54 | protein_coding | tolerated(0.09) | possibly_damaging(0.605) | TCGA-CV-7433-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
DEF8 | SNV | Missense_Mutation | novel | c.1487N>A | p.Ser496Asn | p.S496N | Q6ZN54 | protein_coding | tolerated(0.27) | benign(0.001) | TCGA-D6-A6EP-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
DEF8 | SNV | Missense_Mutation | rs200129378 | c.1262G>A | p.Arg421His | p.R421H | Q6ZN54 | protein_coding | tolerated(0.15) | probably_damaging(0.974) | TCGA-BR-8363-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DEF8 | SNV | Missense_Mutation | novel | c.160A>G | p.Thr54Ala | p.T54A | Q6ZN54 | protein_coding | tolerated_low_confidence(0.84) | benign(0) | TCGA-BR-8680-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR |
DEF8 | SNV | Missense_Mutation | novel | c.151G>A | p.Ala51Thr | p.A51T | Q6ZN54 | protein_coding | tolerated_low_confidence(0.12) | benign(0) | TCGA-CG-4460-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | capecitabine | PD |
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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 |
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