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/CLDN1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/CLDN1_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/CLDN1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![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/OralCavity/CLDN1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/CLDN1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/CLDN1_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/CLDN1_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:00506739 | Prostate | BPH | epithelial cell proliferation | 116/3107 | 437/18723 | 7.12e-08 | 1.85e-06 | 116 |
GO:00506789 | Prostate | BPH | regulation of epithelial cell proliferation | 104/3107 | 381/18723 | 7.52e-08 | 1.92e-06 | 104 |
GO:00715597 | Prostate | BPH | response to transforming growth factor beta | 76/3107 | 256/18723 | 1.14e-07 | 2.73e-06 | 76 |
GO:00454468 | Prostate | BPH | endothelial cell differentiation | 43/3107 | 118/18723 | 1.49e-07 | 3.46e-06 | 43 |
GO:006102810 | Prostate | BPH | establishment of endothelial barrier | 23/3107 | 46/18723 | 1.71e-07 | 3.85e-06 | 23 |
GO:00018858 | Prostate | BPH | endothelial cell development | 28/3107 | 64/18723 | 2.93e-07 | 6.23e-06 | 28 |
GO:005138416 | Prostate | BPH | response to glucocorticoid | 49/3107 | 148/18723 | 6.20e-07 | 1.21e-05 | 49 |
GO:19018888 | Prostate | BPH | regulation of cell junction assembly | 62/3107 | 204/18723 | 6.71e-07 | 1.30e-05 | 62 |
GO:00715607 | Prostate | BPH | cellular response to transforming growth factor beta stimulus | 72/3107 | 250/18723 | 8.71e-07 | 1.61e-05 | 72 |
GO:003196016 | Prostate | BPH | response to corticosteroid | 52/3107 | 167/18723 | 2.34e-06 | 3.81e-05 | 52 |
GO:006104110 | Prostate | BPH | regulation of wound healing | 44/3107 | 134/18723 | 2.91e-06 | 4.61e-05 | 44 |
GO:004521616 | Prostate | BPH | cell-cell junction organization | 59/3107 | 200/18723 | 3.57e-06 | 5.54e-05 | 59 |
GO:190303416 | Prostate | BPH | regulation of response to wounding | 51/3107 | 167/18723 | 5.43e-06 | 8.01e-05 | 51 |
GO:00905576 | Prostate | BPH | establishment of endothelial intestinal barrier | 9/3107 | 12/18723 | 1.28e-05 | 1.70e-04 | 9 |
GO:006100816 | Prostate | BPH | hepaticobiliary system development | 46/3107 | 150/18723 | 1.36e-05 | 1.78e-04 | 46 |
GO:000188916 | Prostate | BPH | liver development | 45/3107 | 147/18723 | 1.76e-05 | 2.18e-04 | 45 |
GO:003461216 | Prostate | BPH | response to tumor necrosis factor | 68/3107 | 253/18723 | 2.22e-05 | 2.67e-04 | 68 |
GO:007124110 | Prostate | BPH | cellular response to inorganic substance | 62/3107 | 226/18723 | 2.57e-05 | 3.05e-04 | 62 |
GO:00903038 | Prostate | BPH | positive regulation of wound healing | 23/3107 | 59/18723 | 3.28e-05 | 3.69e-04 | 23 |
GO:00435886 | Prostate | BPH | skin development | 69/3107 | 263/18723 | 4.49e-05 | 4.73e-04 | 69 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513020 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa0467020 | Cervix | CC | Leukocyte transendothelial migration | 36/1267 | 114/8465 | 5.22e-06 | 4.83e-05 | 2.86e-05 | 36 |
hsa045147 | Cervix | CC | Cell adhesion molecules | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa04530110 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa04670110 | Cervix | CC | Leukocyte transendothelial migration | 36/1267 | 114/8465 | 5.22e-06 | 4.83e-05 | 2.86e-05 | 36 |
hsa0451412 | Cervix | CC | Cell adhesion molecules | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
hsa0513044 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa0451441 | Cervix | N_HPV | Cell adhesion molecules | 18/349 | 157/8465 | 7.71e-05 | 8.06e-04 | 6.30e-04 | 18 |
hsa0453025 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
hsa0467045 | Cervix | N_HPV | Leukocyte transendothelial migration | 12/349 | 114/8465 | 2.50e-03 | 1.45e-02 | 1.13e-02 | 12 |
hsa0513054 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa0451451 | Cervix | N_HPV | Cell adhesion molecules | 18/349 | 157/8465 | 7.71e-05 | 8.06e-04 | 6.30e-04 | 18 |
hsa0453035 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
hsa0467055 | Cervix | N_HPV | Leukocyte transendothelial migration | 12/349 | 114/8465 | 2.50e-03 | 1.45e-02 | 1.13e-02 | 12 |
hsa0513039 | Esophagus | HGIN | Pathogenic Escherichia coli infection | 54/1383 | 197/8465 | 4.91e-05 | 6.15e-04 | 4.89e-04 | 54 |
hsa0453039 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
hsa05130115 | Esophagus | HGIN | Pathogenic Escherichia coli infection | 54/1383 | 197/8465 | 4.91e-05 | 6.15e-04 | 4.89e-04 | 54 |
hsa04530115 | Esophagus | HGIN | Tight junction | 40/1383 | 169/8465 | 8.18e-03 | 4.71e-02 | 3.74e-02 | 40 |
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 |
CLDN1 | SNV | Missense_Mutation | | c.450N>A | p.Asp150Glu | p.D150E | O95832 | protein_coding | deleterious(0.02) | benign(0.403) | TCGA-AC-A3YI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
CLDN1 | SNV | Missense_Mutation | novel | c.97N>C | p.Tyr33His | p.Y33H | O95832 | protein_coding | deleterious(0) | possibly_damaging(0.722) | TCGA-XX-A899-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
CLDN1 | insertion | In_Frame_Ins | novel | c.228_229insAAAAAGTTATTTAAC | p.Thr76_Leu77insLysLysLeuPheAsn | p.T76_L77insKKLFN | O95832 | protein_coding | | | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CLDN1 | deletion | Frame_Shift_Del | novel | c.485delN | p.Gly162ValfsTer73 | p.G162Vfs*73 | O95832 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CLDN1 | SNV | Missense_Mutation | novel | c.391N>G | p.Leu131Val | p.L131V | O95832 | protein_coding | tolerated(0.24) | possibly_damaging(0.759) | TCGA-MA-AA41-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CLDN1 | deletion | Frame_Shift_Del | | c.194_195delNN | p.Lys65SerfsTer3 | p.K65Sfs*3 | O95832 | protein_coding | | | TCGA-G4-6309-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | PD |
CLDN1 | SNV | Missense_Mutation | rs147881276 | c.631G>A | p.Val211Met | p.V211M | O95832 | protein_coding | deleterious(0.05) | probably_damaging(0.992) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CLDN1 | SNV | Missense_Mutation | novel | c.221N>T | p.Ser74Ile | p.S74I | O95832 | protein_coding | deleterious(0.01) | possibly_damaging(0.449) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
CLDN1 | SNV | Missense_Mutation | rs772600198 | c.331N>A | p.Asp111Asn | p.D111N | O95832 | protein_coding | tolerated(0.35) | benign(0.279) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
CLDN1 | SNV | Missense_Mutation | rs754012333 | c.253N>A | p.Val85Met | p.V85M | O95832 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |