Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the 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.](images/deg_images/Cervix/EPB41L5_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![The image shows the 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.](images/deg_images/Endometrium/EPB41L5_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the 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.](images/deg_images/Esophagus/EPB41L5_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the 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.](images/deg_images/Liver/EPB41L5_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the 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.](images/deg_images/Lung/EPB41L5_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Skin | ![The image shows the 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.](images/deg_images/Skin/EPB41L5_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the 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.](images/deg_images/Thyroid/EPB41L5_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00433937 | Liver | NAFLD | regulation of protein binding | 34/1882 | 196/18723 | 1.11e-03 | 1.28e-02 | 34 |
GO:00510997 | Liver | NAFLD | positive regulation of binding | 30/1882 | 173/18723 | 2.11e-03 | 2.07e-02 | 30 |
GO:00019545 | Liver | NAFLD | positive regulation of cell-matrix adhesion | 13/1882 | 58/18723 | 4.32e-03 | 3.55e-02 | 13 |
GO:00016676 | Liver | NAFLD | ameboidal-type cell migration | 65/1882 | 475/18723 | 6.32e-03 | 4.69e-02 | 65 |
GO:005109812 | Liver | Cirrhotic | regulation of binding | 148/4634 | 363/18723 | 9.14e-12 | 5.97e-10 | 148 |
GO:015011512 | Liver | Cirrhotic | cell-substrate junction organization | 51/4634 | 101/18723 | 2.08e-08 | 7.47e-07 | 51 |
GO:004339312 | Liver | Cirrhotic | regulation of protein binding | 83/4634 | 196/18723 | 4.44e-08 | 1.42e-06 | 83 |
GO:005109912 | Liver | Cirrhotic | positive regulation of binding | 74/4634 | 173/18723 | 1.44e-07 | 3.87e-06 | 74 |
GO:015011612 | Liver | Cirrhotic | regulation of cell-substrate junction organization | 38/4634 | 71/18723 | 1.84e-07 | 4.82e-06 | 38 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:001081012 | Liver | Cirrhotic | regulation of cell-substrate adhesion | 88/4634 | 221/18723 | 4.89e-07 | 1.10e-05 | 88 |
GO:000704412 | Liver | Cirrhotic | cell-substrate junction assembly | 46/4634 | 95/18723 | 4.89e-07 | 1.10e-05 | 46 |
GO:003209211 | Liver | Cirrhotic | positive regulation of protein binding | 41/4634 | 85/18723 | 2.28e-06 | 4.19e-05 | 41 |
GO:01501171 | Liver | Cirrhotic | positive regulation of cell-substrate junction organization | 21/4634 | 33/18723 | 2.55e-06 | 4.63e-05 | 21 |
GO:007155911 | Liver | Cirrhotic | response to transforming growth factor beta | 96/4634 | 256/18723 | 3.55e-06 | 6.09e-05 | 96 |
GO:003158912 | Liver | Cirrhotic | cell-substrate adhesion | 128/4634 | 363/18723 | 4.10e-06 | 6.90e-05 | 128 |
GO:000195211 | Liver | Cirrhotic | regulation of cell-matrix adhesion | 55/4634 | 128/18723 | 4.64e-06 | 7.65e-05 | 55 |
GO:004804111 | Liver | Cirrhotic | focal adhesion assembly | 41/4634 | 87/18723 | 4.78e-06 | 7.86e-05 | 41 |
GO:001081112 | Liver | Cirrhotic | positive regulation of cell-substrate adhesion | 53/4634 | 123/18723 | 6.21e-06 | 9.88e-05 | 53 |
GO:007156011 | Liver | Cirrhotic | cellular response to transforming growth factor beta stimulus | 93/4634 | 250/18723 | 7.34e-06 | 1.13e-04 | 93 |
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 |
EPB41L5 | SNV | Missense_Mutation | | c.391C>T | p.Arg131Cys | p.R131C | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-A7-A26F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
EPB41L5 | SNV | Missense_Mutation | | c.966C>G | p.Phe322Leu | p.F322L | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB41L5 | SNV | Missense_Mutation | | c.1851N>T | p.Met617Ile | p.M617I | Q9HCM4 | protein_coding | tolerated_low_confidence(0.5) | benign(0.003) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EPB41L5 | SNV | Missense_Mutation | novel | c.1279N>T | p.Pro427Ser | p.P427S | Q9HCM4 | protein_coding | tolerated(0.54) | benign(0.075) | TCGA-D8-A1JF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EPB41L5 | SNV | Missense_Mutation | | c.274N>C | p.Ala92Pro | p.A92P | Q9HCM4 | protein_coding | tolerated(0.09) | probably_damaging(0.994) | TCGA-D8-A27F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
EPB41L5 | SNV | Missense_Mutation | novel | c.1900G>A | p.Glu634Lys | p.E634K | Q9HCM4 | protein_coding | deleterious_low_confidence(0.04) | benign(0.214) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
EPB41L5 | SNV | Missense_Mutation | | c.473C>T | p.Thr158Ile | p.T158I | Q9HCM4 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-AA-3502-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPB41L5 | SNV | Missense_Mutation | | c.563N>C | p.Arg188Thr | p.R188T | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3697-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPB41L5 | SNV | Missense_Mutation | | c.2079A>T | p.Lys693Asn | p.K693N | Q9HCM4 | protein_coding | tolerated_low_confidence(0.4) | benign(0.007) | TCGA-AA-3875-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPB41L5 | SNV | Missense_Mutation | rs150028843 | c.433C>G | p.Gln145Glu | p.Q145E | Q9HCM4 | protein_coding | deleterious(0.04) | possibly_damaging(0.892) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |