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Gene: EPS8L2 |
Gene summary for EPS8L2 |
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Gene information | Species | Human | Gene symbol | EPS8L2 | Gene ID | 64787 |
Gene name | EPS8 like 2 | |
Gene Alias | DFNB106 | |
Cytomap | 11p15.5 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q9H6S3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
64787 | EPS8L2 | P52T-E | Human | Esophagus | ESCC | 2.02e-31 | 5.89e-01 | 0.1555 |
64787 | EPS8L2 | P54T-E | Human | Esophagus | ESCC | 6.19e-23 | 6.05e-01 | 0.0975 |
64787 | EPS8L2 | P56T-E | Human | Esophagus | ESCC | 5.12e-06 | 1.36e+00 | 0.1613 |
64787 | EPS8L2 | P57T-E | Human | Esophagus | ESCC | 3.89e-38 | 8.14e-01 | 0.0926 |
64787 | EPS8L2 | P61T-E | Human | Esophagus | ESCC | 6.03e-24 | 6.04e-01 | 0.099 |
64787 | EPS8L2 | P62T-E | Human | Esophagus | ESCC | 4.49e-43 | 1.06e+00 | 0.1302 |
64787 | EPS8L2 | P65T-E | Human | Esophagus | ESCC | 1.27e-14 | 3.63e-01 | 0.0978 |
64787 | EPS8L2 | P74T-E | Human | Esophagus | ESCC | 3.53e-47 | 1.52e+00 | 0.1479 |
64787 | EPS8L2 | P75T-E | Human | Esophagus | ESCC | 1.35e-81 | 1.62e+00 | 0.1125 |
64787 | EPS8L2 | P76T-E | Human | Esophagus | ESCC | 1.18e-21 | 4.73e-01 | 0.1207 |
64787 | EPS8L2 | P79T-E | Human | Esophagus | ESCC | 5.03e-22 | 4.11e-01 | 0.1154 |
64787 | EPS8L2 | P80T-E | Human | Esophagus | ESCC | 5.68e-20 | 6.64e-01 | 0.155 |
64787 | EPS8L2 | P82T-E | Human | Esophagus | ESCC | 4.58e-25 | 1.70e+00 | 0.1072 |
64787 | EPS8L2 | P83T-E | Human | Esophagus | ESCC | 1.40e-10 | 3.21e-01 | 0.1738 |
64787 | EPS8L2 | P84T-E | Human | Esophagus | ESCC | 7.93e-05 | 5.12e-01 | 0.0933 |
64787 | EPS8L2 | P89T-E | Human | Esophagus | ESCC | 2.62e-07 | 8.22e-01 | 0.1752 |
64787 | EPS8L2 | P91T-E | Human | Esophagus | ESCC | 2.54e-02 | 6.15e-01 | 0.1828 |
64787 | EPS8L2 | P104T-E | Human | Esophagus | ESCC | 1.65e-09 | 6.92e-01 | 0.0931 |
64787 | EPS8L2 | P107T-E | Human | Esophagus | ESCC | 7.81e-15 | 4.79e-01 | 0.171 |
64787 | EPS8L2 | P127T-E | Human | Esophagus | ESCC | 2.85e-08 | 1.35e-01 | 0.0826 |
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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 |
GO:006049117 | Esophagus | HGIN | regulation of cell projection assembly | 39/2587 | 188/18723 | 5.61e-03 | 4.57e-02 | 39 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
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:000726610 | Esophagus | ESCC | Rho protein signal transduction | 81/8552 | 137/18723 | 1.03e-03 | 5.20e-03 | 81 |
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:00465789 | Esophagus | ESCC | regulation of Ras protein signal transduction | 106/8552 | 189/18723 | 2.49e-03 | 1.08e-02 | 106 |
GO:19000277 | Esophagus | ESCC | regulation of ruffle assembly | 21/8552 | 31/18723 | 1.10e-02 | 3.70e-02 | 21 |
GO:005105610 | Esophagus | ESCC | regulation of small GTPase mediated signal transduction | 157/8552 | 302/18723 | 1.55e-02 | 4.98e-02 | 157 |
GO:000726511 | Liver | Cirrhotic | Ras protein signal transduction | 119/4634 | 337/18723 | 8.16e-06 | 1.22e-04 | 119 |
GO:000726611 | Liver | Cirrhotic | Rho protein signal transduction | 53/4634 | 137/18723 | 2.05e-04 | 1.89e-03 | 53 |
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: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:003502311 | Liver | Cirrhotic | regulation of Rho protein signal transduction | 32/4634 | 86/18723 | 6.81e-03 | 3.35e-02 | 32 |
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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 |
EPS8L2 | SNV | Missense_Mutation | novel | c.1894N>A | p.Glu632Lys | p.E632K | Q9H6S3 | protein_coding | deleterious(0) | benign(0.148) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
EPS8L2 | SNV | Missense_Mutation | novel | c.830N>T | p.Ala277Val | p.A277V | Q9H6S3 | protein_coding | deleterious(0) | probably_damaging(0.935) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EPS8L2 | SNV | Missense_Mutation | novel | c.971N>T | p.Ala324Val | p.A324V | Q9H6S3 | protein_coding | deleterious(0) | possibly_damaging(0.793) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EPS8L2 | SNV | Missense_Mutation | c.19N>C | p.Val7Leu | p.V7L | Q9H6S3 | protein_coding | tolerated_low_confidence(0.46) | benign(0) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
EPS8L2 | deletion | Frame_Shift_Del | c.2137delG | p.Glu713ArgfsTer114 | p.E713Rfs*114 | Q9H6S3 | protein_coding | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |||
EPS8L2 | SNV | Missense_Mutation | novel | c.775N>A | p.Leu259Ile | p.L259I | Q9H6S3 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
EPS8L2 | SNV | Missense_Mutation | rs369273038 | c.1072T>C | p.Cys358Arg | p.C358R | Q9H6S3 | protein_coding | deleterious(0) | possibly_damaging(0.598) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
EPS8L2 | SNV | Missense_Mutation | rs558489382 | c.19N>A | p.Val7Met | p.V7M | Q9H6S3 | protein_coding | tolerated_low_confidence(0.32) | benign(0) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPS8L2 | SNV | Missense_Mutation | c.799G>A | p.Glu267Lys | p.E267K | Q9H6S3 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
EPS8L2 | SNV | Missense_Mutation | c.258N>T | p.Lys86Asn | p.K86N | Q9H6S3 | protein_coding | deleterious(0) | possibly_damaging(0.812) | TCGA-AZ-6606-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | folfiri | 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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