Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:012019215 | Prostate | Tumor | tight junction assembly | 23/3246 | 74/18723 | 2.69e-03 | 1.48e-02 | 23 |
GO:006024915 | Prostate | Tumor | anatomical structure homeostasis | 74/3246 | 314/18723 | 2.82e-03 | 1.54e-02 | 74 |
GO:000704317 | Prostate | Tumor | cell-cell junction assembly | 39/3246 | 146/18723 | 2.93e-03 | 1.58e-02 | 39 |
GO:012019315 | Prostate | Tumor | tight junction organization | 24/3246 | 80/18723 | 3.69e-03 | 1.89e-02 | 24 |
GO:003223212 | Prostate | Tumor | negative regulation of actin filament bundle assembly | 13/3246 | 35/18723 | 4.14e-03 | 2.08e-02 | 13 |
GO:0043114 | Prostate | Tumor | regulation of vascular permeability | 16/3246 | 47/18723 | 4.27e-03 | 2.13e-02 | 16 |
GO:190134212 | Prostate | Tumor | regulation of vasculature development | 79/3246 | 348/18723 | 5.84e-03 | 2.71e-02 | 79 |
GO:004576512 | Prostate | Tumor | regulation of angiogenesis | 77/3246 | 342/18723 | 7.92e-03 | 3.52e-02 | 77 |
GO:00030183 | Prostate | Tumor | vascular process in circulatory system | 61/3246 | 263/18723 | 8.88e-03 | 3.84e-02 | 61 |
GO:20008101 | Prostate | Tumor | regulation of bicellular tight junction assembly | 9/3246 | 23/18723 | 1.11e-02 | 4.56e-02 | 9 |
GO:003432919 | Skin | AK | cell junction assembly | 86/1910 | 420/18723 | 1.95e-10 | 2.68e-08 | 86 |
GO:004521626 | Skin | AK | cell-cell junction organization | 51/1910 | 200/18723 | 4.51e-10 | 5.24e-08 | 51 |
GO:004578528 | Skin | AK | positive regulation of cell adhesion | 85/1910 | 437/18723 | 3.40e-09 | 2.79e-07 | 85 |
GO:000701528 | Skin | AK | actin filament organization | 85/1910 | 442/18723 | 5.94e-09 | 4.14e-07 | 85 |
GO:000206425 | Skin | AK | epithelial cell development | 51/1910 | 220/18723 | 1.50e-08 | 9.13e-07 | 51 |
GO:190290328 | Skin | AK | regulation of supramolecular fiber organization | 75/1910 | 383/18723 | 2.11e-08 | 1.20e-06 | 75 |
GO:003297028 | Skin | AK | regulation of actin filament-based process | 76/1910 | 397/18723 | 4.61e-08 | 2.37e-06 | 76 |
GO:000704319 | Skin | AK | cell-cell junction assembly | 36/1910 | 146/18723 | 3.88e-07 | 1.47e-05 | 36 |
GO:002240725 | Skin | AK | regulation of cell-cell adhesion | 79/1910 | 448/18723 | 8.55e-07 | 2.81e-05 | 79 |
GO:003295628 | Skin | AK | regulation of actin cytoskeleton organization | 66/1910 | 358/18723 | 1.40e-06 | 4.26e-05 | 66 |
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 |
hsa0452020 | Cervix | CC | Adherens junction | 33/1267 | 93/8465 | 6.99e-07 | 7.31e-06 | 4.32e-06 | 33 |
hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa051207 | Cervix | CC | Epithelial cell signaling in Helicobacter pylori infection | 24/1267 | 70/8465 | 4.35e-05 | 3.09e-04 | 1.83e-04 | 24 |
hsa0511016 | Cervix | CC | Vibrio cholerae infection | 18/1267 | 50/8465 | 1.91e-04 | 1.11e-03 | 6.55e-04 | 18 |
hsa04540 | Cervix | CC | Gap junction | 22/1267 | 88/8465 | 9.07e-03 | 2.85e-02 | 1.69e-02 | 22 |
hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa04520110 | Cervix | CC | Adherens junction | 33/1267 | 93/8465 | 6.99e-07 | 7.31e-06 | 4.32e-06 | 33 |
hsa04530110 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa0512014 | Cervix | CC | Epithelial cell signaling in Helicobacter pylori infection | 24/1267 | 70/8465 | 4.35e-05 | 3.09e-04 | 1.83e-04 | 24 |
hsa0511017 | Cervix | CC | Vibrio cholerae infection | 18/1267 | 50/8465 | 1.91e-04 | 1.11e-03 | 6.55e-04 | 18 |
hsa045401 | Cervix | CC | Gap junction | 22/1267 | 88/8465 | 9.07e-03 | 2.85e-02 | 1.69e-02 | 22 |
hsa0513044 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa0511023 | Cervix | N_HPV | Vibrio cholerae infection | 8/349 | 50/8465 | 9.07e-04 | 6.49e-03 | 5.08e-03 | 8 |
hsa0453025 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
hsa0513054 | Cervix | N_HPV | Pathogenic Escherichia coli infection | 25/349 | 197/8465 | 4.71e-07 | 8.00e-06 | 6.25e-06 | 25 |
hsa0511033 | Cervix | N_HPV | Vibrio cholerae infection | 8/349 | 50/8465 | 9.07e-04 | 6.49e-03 | 5.08e-03 | 8 |
hsa0453035 | Cervix | N_HPV | Tight junction | 16/349 | 169/8465 | 1.60e-03 | 1.01e-02 | 7.92e-03 | 16 |
hsa04520 | Colorectum | AD | Adherens junction | 50/2092 | 93/8465 | 1.52e-09 | 2.83e-08 | 1.81e-08 | 50 |
hsa04530 | Colorectum | AD | Tight junction | 76/2092 | 169/8465 | 5.49e-09 | 9.69e-08 | 6.18e-08 | 76 |
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 |
TJP1 | SNV | Missense_Mutation | | c.5013N>G | p.Ile1671Met | p.I1671M | | protein_coding | deleterious(0) | probably_damaging(0.924) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TJP1 | SNV | Missense_Mutation | | c.3556G>A | p.Ala1186Thr | p.A1186T | | protein_coding | tolerated_low_confidence(0.1) | benign(0.001) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TJP1 | SNV | Missense_Mutation | novel | c.3859G>T | p.Asp1287Tyr | p.D1287Y | | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.503) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TJP1 | SNV | Missense_Mutation | rs761548583 | c.3202N>A | p.Asp1068Asn | p.D1068N | | protein_coding | deleterious_low_confidence(0) | benign(0.248) | TCGA-AR-A0TQ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
TJP1 | SNV | Missense_Mutation | | c.155N>A | p.Thr52Lys | p.T52K | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TJP1 | SNV | Missense_Mutation | novel | c.3617N>A | p.Gly1206Glu | p.G1206E | | protein_coding | deleterious_low_confidence(0.01) | benign(0.234) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
TJP1 | SNV | Missense_Mutation | | c.855G>C | p.Glu285Asp | p.E285D | | protein_coding | tolerated(0.73) | benign(0.014) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
TJP1 | SNV | Missense_Mutation | novel | c.1741N>C | p.Glu581Gln | p.E581Q | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A8HP-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
TJP1 | SNV | Missense_Mutation | | c.2078N>T | p.Thr693Ile | p.T693I | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
TJP1 | SNV | Missense_Mutation | | c.4102N>C | p.Glu1368Gln | p.E1368Q | | protein_coding | tolerated_low_confidence(0.08) | possibly_damaging(0.628) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |