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:001063420 | Skin | AK | positive regulation of epithelial cell migration | 38/1910 | 176/18723 | 6.10e-06 | 1.39e-04 | 38 |
GO:00518949 | Skin | AK | positive regulation of focal adhesion assembly | 12/1910 | 28/18723 | 7.83e-06 | 1.72e-04 | 12 |
GO:000195419 | Skin | AK | positive regulation of cell-matrix adhesion | 18/1910 | 58/18723 | 1.09e-05 | 2.29e-04 | 18 |
GO:001081127 | Skin | AK | positive regulation of cell-substrate adhesion | 29/1910 | 123/18723 | 1.29e-05 | 2.58e-04 | 29 |
GO:000716210 | Skin | AK | negative regulation of cell adhesion | 55/1910 | 303/18723 | 1.64e-05 | 3.15e-04 | 55 |
GO:00074927 | Skin | AK | endoderm development | 21/1910 | 77/18723 | 1.95e-05 | 3.64e-04 | 21 |
GO:00163317 | Skin | AK | morphogenesis of embryonic epithelium | 32/1910 | 147/18723 | 2.69e-05 | 4.76e-04 | 32 |
GO:003209217 | Skin | AK | positive regulation of protein binding | 21/1910 | 85/18723 | 9.53e-05 | 1.27e-03 | 21 |
GO:003103220 | Skin | AK | actomyosin structure organization | 37/1910 | 196/18723 | 1.67e-04 | 1.94e-03 | 37 |
GO:004339324 | Skin | AK | regulation of protein binding | 36/1910 | 196/18723 | 3.52e-04 | 3.50e-03 | 36 |
GO:003004816 | Skin | AK | actin filament-based movement | 26/1910 | 127/18723 | 4.11e-04 | 3.93e-03 | 26 |
GO:00604857 | Skin | AK | mesenchyme development | 48/1910 | 291/18723 | 5.64e-04 | 5.06e-03 | 48 |
GO:00487629 | Skin | AK | mesenchymal cell differentiation | 40/1910 | 236/18723 | 9.16e-04 | 7.50e-03 | 40 |
GO:00018379 | Skin | AK | epithelial to mesenchymal transition | 29/1910 | 157/18723 | 1.15e-03 | 8.86e-03 | 29 |
GO:0007498 | Skin | AK | mesoderm development | 25/1910 | 129/18723 | 1.21e-03 | 9.28e-03 | 25 |
GO:0048546 | Skin | AK | digestive tract morphogenesis | 12/1910 | 45/18723 | 1.43e-03 | 1.05e-02 | 12 |
GO:005110024 | Skin | AK | negative regulation of binding | 29/1910 | 162/18723 | 1.89e-03 | 1.29e-02 | 29 |
GO:19018902 | Skin | AK | positive regulation of cell junction assembly | 20/1910 | 104/18723 | 3.91e-03 | 2.30e-02 | 20 |
GO:00033825 | Skin | AK | epithelial cell morphogenesis | 9/1910 | 33/18723 | 4.68e-03 | 2.69e-02 | 9 |
GO:0007398 | Skin | AK | ectoderm development | 7/1910 | 22/18723 | 4.88e-03 | 2.77e-02 | 7 |
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 |