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Gene: EPS8 |
Gene summary for EPS8 |
Gene summary. |
Gene information | Species | Human | Gene symbol | EPS8 | Gene ID | 2059 |
Gene name | epidermal growth factor receptor pathway substrate 8 | |
Gene Alias | DFNB102 | |
Cytomap | 12p12.3 | |
Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | B4E3T6 |
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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 |
2059 | EPS8 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.86e-43 | -1.07e+00 | 0.0155 |
2059 | EPS8 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.06e-03 | -8.33e-01 | 0.0216 |
2059 | EPS8 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.36e-21 | -1.03e+00 | -0.1207 |
2059 | EPS8 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.83e-08 | -5.93e-01 | -0.1526 |
2059 | EPS8 | HTA11_696_2000001011 | Human | Colorectum | AD | 9.16e-33 | -5.86e-01 | -0.1464 |
2059 | EPS8 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.63e-16 | -5.56e-01 | -0.1001 |
2059 | EPS8 | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.43e-04 | -5.49e-01 | -0.059 |
2059 | EPS8 | HTA11_5212_2000001011 | Human | Colorectum | AD | 9.94e-03 | -5.51e-01 | -0.2061 |
2059 | EPS8 | HTA11_546_2000001011 | Human | Colorectum | AD | 3.92e-03 | -6.16e-01 | -0.0842 |
2059 | EPS8 | HTA11_9341_2000001011 | Human | Colorectum | SER | 6.34e-05 | -1.12e+00 | -0.00410000000000005 |
2059 | EPS8 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.20e-06 | -5.79e-01 | -0.0179 |
2059 | EPS8 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.58e-10 | -7.09e-01 | 0.096 |
2059 | EPS8 | HTA11_4255_2000001011 | Human | Colorectum | SER | 2.26e-04 | -9.36e-01 | 0.0446 |
2059 | EPS8 | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.84e-02 | -8.31e-01 | 0.0451 |
2059 | EPS8 | HTA11_8622_2000001021 | Human | Colorectum | SER | 5.74e-08 | -1.01e+00 | 0.0528 |
2059 | EPS8 | HTA11_7663_2000001011 | Human | Colorectum | SER | 4.92e-03 | -6.52e-01 | 0.0131 |
2059 | EPS8 | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.23e-03 | -5.79e-01 | -0.0177 |
2059 | EPS8 | HTA11_6801_2000001011 | Human | Colorectum | SER | 3.65e-02 | -8.03e-01 | 0.0171 |
2059 | EPS8 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.97e-18 | -8.78e-01 | 0.0338 |
2059 | EPS8 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.96e-23 | -6.52e-01 | 0.0674 |
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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:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
GO:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
GO:0110053 | Colorectum | AD | regulation of actin filament organization | 108/3918 | 278/18723 | 5.02e-12 | 6.98e-10 | 108 |
GO:0008154 | Colorectum | AD | actin polymerization or depolymerization | 90/3918 | 218/18723 | 6.14e-12 | 8.23e-10 | 90 |
GO:0032271 | Colorectum | AD | regulation of protein polymerization | 94/3918 | 233/18723 | 1.01e-11 | 1.29e-09 | 94 |
GO:0030041 | Colorectum | AD | actin filament polymerization | 81/3918 | 191/18723 | 1.35e-11 | 1.69e-09 | 81 |
GO:0051258 | Colorectum | AD | protein polymerization | 112/3918 | 297/18723 | 1.85e-11 | 2.27e-09 | 112 |
GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
GO:0008064 | Colorectum | AD | regulation of actin polymerization or depolymerization | 79/3918 | 188/18723 | 4.17e-11 | 4.74e-09 | 79 |
GO:0030833 | Colorectum | AD | regulation of actin filament polymerization | 74/3918 | 172/18723 | 4.50e-11 | 5.03e-09 | 74 |
GO:0030832 | Colorectum | AD | regulation of actin filament length | 79/3918 | 189/18723 | 5.71e-11 | 6.27e-09 | 79 |
GO:0032956 | Colorectum | AD | regulation of actin cytoskeleton organization | 127/3918 | 358/18723 | 1.03e-10 | 1.04e-08 | 127 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0032984 | Colorectum | AD | protein-containing complex disassembly | 81/3918 | 224/18723 | 9.41e-08 | 4.65e-06 | 81 |
GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
GO:0032272 | Colorectum | AD | negative regulation of protein polymerization | 36/3918 | 80/18723 | 1.13e-06 | 3.72e-05 | 36 |
GO:0061572 | Colorectum | AD | actin filament bundle organization | 60/3918 | 161/18723 | 1.33e-06 | 4.23e-05 | 60 |
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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 |
EPS8 | SNV | Missense_Mutation | novel | c.2268N>A | p.Phe756Leu | p.F756L | Q12929 | protein_coding | deleterious(0) | possibly_damaging(0.77) | TCGA-CN-4728-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | vectibix | SD |
EPS8 | SNV | Missense_Mutation | novel | c.1855N>A | p.Asp619Asn | p.D619N | Q12929 | protein_coding | tolerated(0.5) | benign(0.001) | TCGA-CQ-5331-01 | Oral cavity | head & neck squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | novel | c.1564G>A | p.Asp522Asn | p.D522N | Q12929 | protein_coding | tolerated(0.78) | benign(0.015) | TCGA-CR-7404-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | paclitaxel | PD |
EPS8 | SNV | Missense_Mutation | novel | c.86N>T | p.Ser29Phe | p.S29F | Q12929 | protein_coding | deleterious(0.02) | possibly_damaging(0.502) | TCGA-D6-6516-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | novel | c.1645N>A | p.Glu549Lys | p.E549K | Q12929 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-P3-A5QF-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cetuximab | PD |
EPS8 | insertion | Frame_Shift_Ins | novel | c.1826_1827insGTGG | p.Arg610TrpfsTer11 | p.R610Wfs*11 | Q12929 | protein_coding | TCGA-HD-8635-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
EPS8 | SNV | Missense_Mutation | rs772084003 | c.2312N>T | p.Ala771Val | p.A771V | Q12929 | protein_coding | tolerated(0.16) | benign(0.109) | TCGA-B7-5816-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | c.1292N>T | p.Pro431Leu | p.P431L | Q12929 | protein_coding | tolerated(0.35) | possibly_damaging(0.452) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EPS8 | SNV | Missense_Mutation | novel | c.1961T>A | p.Ile654Lys | p.I654K | Q12929 | protein_coding | tolerated(0.2) | benign(0.093) | TCGA-CD-5798-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPS8 | SNV | Missense_Mutation | c.2194A>G | p.Thr732Ala | p.T732A | Q12929 | protein_coding | tolerated(1) | benign(0) | TCGA-FP-A4BE-01 | Stomach | stomach adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
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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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