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:00308665 | Stomach | GC | cortical actin cytoskeleton organization | 9/1159 | 40/18723 | 6.17e-04 | 8.31e-03 | 9 |
GO:00343295 | Stomach | GC | cell junction assembly | 42/1159 | 420/18723 | 1.50e-03 | 1.62e-02 | 42 |
GO:1903829113 | Thyroid | PTC | positive regulation of cellular protein localization | 162/5968 | 276/18723 | 2.40e-20 | 3.52e-18 | 162 |
GO:0051098113 | Thyroid | PTC | regulation of binding | 195/5968 | 363/18723 | 3.21e-18 | 3.37e-16 | 195 |
GO:0022604112 | Thyroid | PTC | regulation of cell morphogenesis | 165/5968 | 309/18723 | 2.60e-15 | 1.82e-13 | 165 |
GO:1990778111 | Thyroid | PTC | protein localization to cell periphery | 172/5968 | 333/18723 | 3.71e-14 | 2.30e-12 | 172 |
GO:0150115112 | Thyroid | PTC | cell-substrate junction organization | 67/5968 | 101/18723 | 1.14e-12 | 5.23e-11 | 67 |
GO:0051099113 | Thyroid | PTC | positive regulation of binding | 100/5968 | 173/18723 | 1.56e-12 | 6.96e-11 | 100 |
GO:0016049112 | Thyroid | PTC | cell growth | 225/5968 | 482/18723 | 4.75e-12 | 2.07e-10 | 225 |
GO:000704420 | Thyroid | PTC | cell-substrate junction assembly | 62/5968 | 95/18723 | 2.28e-11 | 8.76e-10 | 62 |
GO:007155919 | Thyroid | PTC | response to transforming growth factor beta | 131/5968 | 256/18723 | 9.20e-11 | 3.17e-09 | 131 |
GO:0001701111 | Thyroid | PTC | in utero embryonic development | 175/5968 | 367/18723 | 1.40e-10 | 4.73e-09 | 175 |
GO:004804119 | Thyroid | PTC | focal adhesion assembly | 56/5968 | 87/18723 | 4.63e-10 | 1.48e-08 | 56 |
GO:0008360111 | Thyroid | PTC | regulation of cell shape | 86/5968 | 154/18723 | 6.22e-10 | 1.95e-08 | 86 |
GO:0150116111 | Thyroid | PTC | regulation of cell-substrate junction organization | 48/5968 | 71/18723 | 6.71e-10 | 2.04e-08 | 48 |
GO:007156019 | Thyroid | PTC | cellular response to transforming growth factor beta stimulus | 126/5968 | 250/18723 | 7.34e-10 | 2.19e-08 | 126 |
GO:0043393111 | Thyroid | PTC | regulation of protein binding | 103/5968 | 196/18723 | 1.39e-09 | 3.96e-08 | 103 |
GO:0010810112 | Thyroid | PTC | regulation of cell-substrate adhesion | 113/5968 | 221/18723 | 1.87e-09 | 5.28e-08 | 113 |
GO:0031589111 | Thyroid | PTC | cell-substrate adhesion | 169/5968 | 363/18723 | 2.73e-09 | 7.57e-08 | 169 |
GO:0051893111 | Thyroid | PTC | regulation of focal adhesion assembly | 44/5968 | 66/18723 | 6.73e-09 | 1.70e-07 | 44 |
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 |