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Gene: EPPK1 |
Gene summary for EPPK1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | EPPK1 | Gene ID | 83481 |
Gene name | epiplakin 1 | |
Gene Alias | EPIPL | |
Cytomap | 8q24.3 | |
Gene Type | protein-coding | GO ID | GO:0001667 | UniProtAcc | A0A087X1U6 |
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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 |
83481 | EPPK1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.77e-02 | 2.34e-01 | -0.1808 |
83481 | EPPK1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.65e-08 | 4.95e-01 | -0.0811 |
83481 | EPPK1 | HTA11_78_2000001011 | Human | Colorectum | AD | 6.17e-08 | 3.25e-01 | -0.1088 |
83481 | EPPK1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.10e-11 | 4.34e-01 | -0.1954 |
83481 | EPPK1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.87e-04 | 2.34e-01 | -0.1001 |
83481 | EPPK1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.08e-16 | 5.93e-01 | -0.059 |
83481 | EPPK1 | HTA11_866_3004761011 | Human | Colorectum | AD | 3.30e-09 | 4.13e-01 | 0.096 |
83481 | EPPK1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 1.37e-05 | 4.45e-01 | -0.0177 |
83481 | EPPK1 | HTA11_6801_2000001011 | Human | Colorectum | SER | 1.72e-03 | 5.56e-01 | 0.0171 |
83481 | EPPK1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.27e-03 | 2.00e-01 | 0.0674 |
83481 | EPPK1 | HTA11_7469_2000001011 | Human | Colorectum | AD | 5.95e-03 | 4.52e-01 | -0.0124 |
83481 | EPPK1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 1.14e-02 | 3.03e-01 | 0.0588 |
83481 | EPPK1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.85e-17 | 5.45e-01 | 0.294 |
83481 | EPPK1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 5.05e-05 | 2.99e-01 | 0.281 |
83481 | EPPK1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.62e-15 | 5.32e-01 | 0.3859 |
83481 | EPPK1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 3.83e-02 | 3.58e-01 | 0.2585 |
83481 | EPPK1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.29e-09 | 3.20e-01 | 0.3005 |
83481 | EPPK1 | CRC-3-11773 | Human | Colorectum | CRC | 3.04e-05 | 4.12e-01 | 0.2564 |
83481 | EPPK1 | LZE4T | Human | Esophagus | ESCC | 2.23e-04 | -2.14e-02 | 0.0811 |
83481 | EPPK1 | LZE5T | Human | Esophagus | ESCC | 2.32e-04 | 1.77e-01 | 0.0514 |
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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:0042060 | Colorectum | AD | wound healing | 128/3918 | 422/18723 | 2.73e-06 | 7.89e-05 | 128 |
GO:0001667 | Colorectum | AD | ameboidal-type cell migration | 137/3918 | 475/18723 | 2.17e-05 | 4.33e-04 | 137 |
GO:0090132 | Colorectum | AD | epithelium migration | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0010632 | Colorectum | AD | regulation of epithelial cell migration | 88/3918 | 292/18723 | 1.19e-04 | 1.75e-03 | 88 |
GO:0010631 | Colorectum | AD | epithelial cell migration | 104/3918 | 357/18723 | 1.33e-04 | 1.90e-03 | 104 |
GO:0090130 | Colorectum | AD | tissue migration | 105/3918 | 365/18723 | 2.10e-04 | 2.77e-03 | 105 |
GO:0050673 | Colorectum | AD | epithelial cell proliferation | 119/3918 | 437/18723 | 8.75e-04 | 8.51e-03 | 119 |
GO:0043616 | Colorectum | AD | keratinocyte proliferation | 19/3918 | 46/18723 | 1.36e-03 | 1.19e-02 | 19 |
GO:0048638 | Colorectum | AD | regulation of developmental growth | 92/3918 | 330/18723 | 1.48e-03 | 1.25e-02 | 92 |
GO:0010837 | Colorectum | AD | regulation of keratinocyte proliferation | 15/3918 | 35/18723 | 2.78e-03 | 2.09e-02 | 15 |
GO:00420601 | Colorectum | SER | wound healing | 97/2897 | 422/18723 | 2.69e-05 | 7.30e-04 | 97 |
GO:00016671 | Colorectum | SER | ameboidal-type cell migration | 105/2897 | 475/18723 | 6.97e-05 | 1.59e-03 | 105 |
GO:00901321 | Colorectum | SER | epithelium migration | 82/2897 | 360/18723 | 1.50e-04 | 2.93e-03 | 82 |
GO:00106311 | Colorectum | SER | epithelial cell migration | 81/2897 | 357/18723 | 1.87e-04 | 3.44e-03 | 81 |
GO:00901301 | Colorectum | SER | tissue migration | 82/2897 | 365/18723 | 2.40e-04 | 4.12e-03 | 82 |
GO:00106321 | Colorectum | SER | regulation of epithelial cell migration | 68/2897 | 292/18723 | 2.72e-04 | 4.53e-03 | 68 |
GO:0061041 | Colorectum | SER | regulation of wound healing | 33/2897 | 134/18723 | 3.78e-03 | 3.13e-02 | 33 |
GO:1903034 | Colorectum | SER | regulation of response to wounding | 39/2897 | 167/18723 | 4.73e-03 | 3.72e-02 | 39 |
GO:00420602 | Colorectum | MSS | wound healing | 119/3467 | 422/18723 | 5.93e-07 | 2.24e-05 | 119 |
GO:00436161 | Colorectum | MSS | keratinocyte proliferation | 20/3467 | 46/18723 | 8.26e-05 | 1.35e-03 | 20 |
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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 |
EPPK1 | SNV | Missense_Mutation | rs782364262 | c.4607C>T | p.Ala1536Val | p.A1536V | protein_coding | deleterious(0) | benign(0.09) | TCGA-CD-A4MG-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
EPPK1 | SNV | Missense_Mutation | novel | c.2515N>G | p.Ser839Ala | p.S839A | protein_coding | deleterious(0) | possibly_damaging(0.488) | TCGA-CG-4305-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | CR | |
EPPK1 | SNV | Missense_Mutation | novel | c.1717C>A | p.Leu573Met | p.L573M | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-CG-4306-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
EPPK1 | SNV | Missense_Mutation | novel | c.8638N>A | p.Ala2880Thr | p.A2880T | protein_coding | deleterious(0) | possibly_damaging(0.723) | TCGA-HF-A5NB-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | SD | |
EPPK1 | SNV | Missense_Mutation | rs782353672 | c.4862N>A | p.Arg1621Gln | p.R1621Q | protein_coding | tolerated(0.45) | benign(0.007) | TCGA-HU-8602-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR | |
EPPK1 | SNV | Missense_Mutation | rs374929678 | c.3968C>T | p.Ala1323Val | p.A1323V | protein_coding | deleterious(0.03) | benign(0.23) | TCGA-HU-A4GQ-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
EPPK1 | SNV | Missense_Mutation | novel | c.3529N>C | p.Ala1177Pro | p.A1177P | protein_coding | deleterious(0.04) | possibly_damaging(0.571) | TCGA-HU-A4H5-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Chemotherapy | doxifluridine | SD | |
EPPK1 | SNV | Missense_Mutation | novel | c.5573A>C | p.Asp1858Ala | p.D1858A | protein_coding | deleterious(0) | benign(0) | TCGA-VQ-A8E2-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | CR | |
EPPK1 | SNV | Missense_Mutation | c.6653N>A | p.Arg2218His | p.R2218H | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |||
EPPK1 | SNV | Missense_Mutation | novel | c.1666N>A | p.Ala556Thr | p.A556T | protein_coding | tolerated(0.15) | benign(0.037) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response |
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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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