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:01501172 | Liver | HCC | positive regulation of cell-substrate junction organization | 24/7958 | 33/18723 | 4.24e-04 | 2.85e-03 | 24 |
GO:006056011 | Liver | HCC | developmental growth involved in morphogenesis | 124/7958 | 234/18723 | 7.37e-04 | 4.47e-03 | 124 |
GO:001081122 | Liver | HCC | positive regulation of cell-substrate adhesion | 70/7958 | 123/18723 | 8.74e-04 | 5.18e-03 | 70 |
GO:000716021 | Liver | HCC | cell-matrix adhesion | 123/7958 | 233/18723 | 9.34e-04 | 5.47e-03 | 123 |
GO:004521622 | Liver | HCC | cell-cell junction organization | 107/7958 | 200/18723 | 1.06e-03 | 6.11e-03 | 107 |
GO:000195421 | Liver | HCC | positive regulation of cell-matrix adhesion | 36/7958 | 58/18723 | 2.07e-03 | 1.04e-02 | 36 |
GO:004578512 | Liver | HCC | positive regulation of cell adhesion | 215/7958 | 437/18723 | 2.53e-03 | 1.22e-02 | 215 |
GO:000206422 | Liver | HCC | epithelial cell development | 114/7958 | 220/18723 | 3.19e-03 | 1.47e-02 | 114 |
GO:00518942 | Liver | HCC | positive regulation of focal adhesion assembly | 19/7958 | 28/18723 | 5.97e-03 | 2.45e-02 | 19 |
GO:00072721 | Liver | HCC | ensheathment of neurons | 72/7958 | 136/18723 | 8.87e-03 | 3.44e-02 | 72 |
GO:00083661 | Liver | HCC | axon ensheathment | 72/7958 | 136/18723 | 8.87e-03 | 3.44e-02 | 72 |
GO:00425521 | Liver | HCC | myelination | 71/7958 | 134/18723 | 9.08e-03 | 3.49e-02 | 71 |
GO:000704312 | Liver | HCC | cell-cell junction assembly | 76/7958 | 146/18723 | 1.23e-02 | 4.47e-02 | 76 |
GO:00074921 | Liver | HCC | endoderm development | 43/7958 | 77/18723 | 1.24e-02 | 4.51e-02 | 43 |
GO:00508926 | Liver | HCC | intestinal absorption | 25/7958 | 41/18723 | 1.31e-02 | 4.69e-02 | 25 |
GO:000166721 | Liver | HCC | ameboidal-type cell migration | 226/7958 | 475/18723 | 1.35e-02 | 4.81e-02 | 226 |
GO:00070447 | Lung | IAC | cell-substrate junction assembly | 36/2061 | 95/18723 | 6.81e-12 | 4.27e-09 | 36 |
GO:00071607 | Lung | IAC | cell-matrix adhesion | 63/2061 | 233/18723 | 7.08e-12 | 4.27e-09 | 63 |
GO:00315897 | Lung | IAC | cell-substrate adhesion | 85/2061 | 363/18723 | 8.57e-12 | 4.27e-09 | 85 |
GO:00480416 | Lung | IAC | focal adhesion assembly | 34/2061 | 87/18723 | 9.46e-12 | 4.27e-09 | 34 |
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 |