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/EPB41_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/EPB41_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/EPB41_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/EPB41_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/EPB41_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/EPB41_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/EPB41_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: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 |
GO:005189312 | Liver | Cirrhotic | regulation of focal adhesion assembly | 33/4634 | 66/18723 | 8.25e-06 | 1.23e-04 | 33 |
GO:009010912 | Liver | Cirrhotic | regulation of cell-substrate junction assembly | 33/4634 | 66/18723 | 8.25e-06 | 1.23e-04 | 33 |
GO:001604911 | Liver | Cirrhotic | cell growth | 160/4634 | 482/18723 | 1.50e-05 | 2.07e-04 | 160 |
GO:000195411 | Liver | Cirrhotic | positive regulation of cell-matrix adhesion | 29/4634 | 58/18723 | 2.87e-05 | 3.64e-04 | 29 |
GO:00308656 | Liver | Cirrhotic | cortical cytoskeleton organization | 30/4634 | 61/18723 | 3.16e-05 | 3.93e-04 | 30 |
GO:003103212 | Liver | Cirrhotic | actomyosin structure organization | 74/4634 | 196/18723 | 3.39e-05 | 4.17e-04 | 74 |
GO:000716011 | Liver | Cirrhotic | cell-matrix adhesion | 85/4634 | 233/18723 | 4.06e-05 | 4.83e-04 | 85 |
GO:00511006 | Liver | Cirrhotic | negative regulation of binding | 63/4634 | 162/18723 | 4.54e-05 | 5.31e-04 | 63 |
GO:000206412 | Liver | Cirrhotic | epithelial cell development | 80/4634 | 220/18723 | 7.63e-05 | 8.44e-04 | 80 |
GO:00320914 | Liver | Cirrhotic | negative regulation of protein binding | 40/4634 | 94/18723 | 1.14e-04 | 1.14e-03 | 40 |
GO:00457857 | Liver | Cirrhotic | positive regulation of cell adhesion | 141/4634 | 437/18723 | 2.05e-04 | 1.89e-03 | 141 |
GO:00518941 | Liver | Cirrhotic | positive regulation of focal adhesion assembly | 16/4634 | 28/18723 | 2.53e-04 | 2.27e-03 | 16 |
GO:19043776 | Liver | Cirrhotic | positive regulation of protein localization to cell periphery | 30/4634 | 69/18723 | 5.04e-04 | 4.01e-03 | 30 |
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 |
EPB41 | SNV | Missense_Mutation | rs202197419 | c.1070N>G | p.Pro357Arg | p.P357R | P11171 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A04W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
EPB41 | SNV | Missense_Mutation | | c.1412G>A | p.Arg471Gln | p.R471Q | P11171 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EPB41 | SNV | Missense_Mutation | | c.223N>C | p.Glu75Gln | p.E75Q | P11171 | protein_coding | tolerated(0.06) | benign(0.077) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EPB41 | SNV | Missense_Mutation | | c.118N>G | p.Gln40Glu | p.Q40E | P11171 | protein_coding | tolerated_low_confidence(0.34) | benign(0.013) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
EPB41 | deletion | Frame_Shift_Del | | c.1056delN | p.Phe353LeufsTer25 | p.F353Lfs*25 | P11171 | protein_coding | | | TCGA-B6-A1KI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB41 | SNV | Missense_Mutation | novel | c.1597C>T | p.Arg533Cys | p.R533C | P11171 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EPB41 | SNV | Missense_Mutation | | c.868N>G | p.Pro290Ala | p.P290A | P11171 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
EPB41 | SNV | Missense_Mutation | novel | c.1828C>A | p.Pro610Thr | p.P610T | P11171 | protein_coding | deleterious(0.03) | benign(0.001) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
EPB41 | SNV | Missense_Mutation | | c.1402N>G | p.Pro468Ala | p.P468A | P11171 | protein_coding | deleterious(0.01) | possibly_damaging(0.453) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
EPB41 | SNV | Missense_Mutation | | c.1969N>A | p.Glu657Lys | p.E657K | P11171 | protein_coding | deleterious(0.01) | benign(0.097) | TCGA-LP-A5U2-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |