Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:00971919 | Breast | Precancer | extrinsic apoptotic signaling pathway | 30/1080 | 219/18723 | 9.42e-06 | 2.50e-04 | 30 |
GO:00342849 | Breast | Precancer | response to monosaccharide | 29/1080 | 225/18723 | 4.19e-05 | 9.00e-04 | 29 |
GO:00097439 | Breast | Precancer | response to carbohydrate | 31/1080 | 253/18723 | 6.15e-05 | 1.25e-03 | 31 |
GO:00018898 | Breast | Precancer | liver development | 21/1080 | 147/18723 | 1.08e-04 | 1.96e-03 | 21 |
GO:0045104 | Breast | Precancer | intermediate filament cytoskeleton organization | 11/1080 | 51/18723 | 1.26e-04 | 2.22e-03 | 11 |
GO:00713568 | Breast | Precancer | cellular response to tumor necrosis factor | 28/1080 | 229/18723 | 1.42e-04 | 2.45e-03 | 28 |
GO:00610088 | Breast | Precancer | hepaticobiliary system development | 21/1080 | 150/18723 | 1.45e-04 | 2.49e-03 | 21 |
GO:0045103 | Breast | Precancer | intermediate filament-based process | 11/1080 | 52/18723 | 1.52e-04 | 2.60e-03 | 11 |
GO:00097469 | Breast | Precancer | response to hexose | 27/1080 | 219/18723 | 1.61e-04 | 2.69e-03 | 27 |
GO:00316679 | Breast | Precancer | response to nutrient levels | 47/1080 | 474/18723 | 2.09e-04 | 3.27e-03 | 47 |
GO:00346128 | Breast | Precancer | response to tumor necrosis factor | 29/1080 | 253/18723 | 3.32e-04 | 4.70e-03 | 29 |
GO:19040193 | Breast | Precancer | epithelial cell apoptotic process | 17/1080 | 121/18723 | 5.76e-04 | 7.28e-03 | 17 |
GO:009719114 | Breast | IDC | extrinsic apoptotic signaling pathway | 42/1434 | 219/18723 | 2.56e-08 | 1.73e-06 | 42 |
GO:004873214 | Breast | IDC | gland development | 64/1434 | 436/18723 | 3.47e-07 | 1.74e-05 | 64 |
GO:003428414 | Breast | IDC | response to monosaccharide | 36/1434 | 225/18723 | 1.94e-05 | 4.83e-04 | 36 |
GO:003166714 | Breast | IDC | response to nutrient levels | 62/1434 | 474/18723 | 2.33e-05 | 5.57e-04 | 62 |
GO:000974314 | Breast | IDC | response to carbohydrate | 38/1434 | 253/18723 | 4.87e-05 | 1.07e-03 | 38 |
GO:007135613 | Breast | IDC | cellular response to tumor necrosis factor | 35/1434 | 229/18723 | 6.64e-05 | 1.35e-03 | 35 |
GO:000974613 | Breast | IDC | response to hexose | 33/1434 | 219/18723 | 1.39e-04 | 2.49e-03 | 33 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0491518 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0491519 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0491523 | Breast | IDC | Estrogen signaling pathway | 35/867 | 138/8465 | 2.55e-07 | 5.18e-06 | 3.88e-06 | 35 |
hsa0491533 | Breast | IDC | Estrogen signaling pathway | 35/867 | 138/8465 | 2.55e-07 | 5.18e-06 | 3.88e-06 | 35 |
hsa0491542 | Breast | DCIS | Estrogen signaling pathway | 35/846 | 138/8465 | 1.40e-07 | 2.51e-06 | 1.85e-06 | 35 |
hsa05150 | Breast | DCIS | Staphylococcus aureus infection | 19/846 | 96/8465 | 2.68e-03 | 1.67e-02 | 1.23e-02 | 19 |
hsa0491552 | Breast | DCIS | Estrogen signaling pathway | 35/846 | 138/8465 | 1.40e-07 | 2.51e-06 | 1.85e-06 | 35 |
hsa051501 | Breast | DCIS | Staphylococcus aureus infection | 19/846 | 96/8465 | 2.68e-03 | 1.67e-02 | 1.23e-02 | 19 |
hsa0491520 | Cervix | CC | Estrogen signaling pathway | 44/1267 | 138/8465 | 3.55e-07 | 3.97e-06 | 2.35e-06 | 44 |
hsa04915110 | Cervix | CC | Estrogen signaling pathway | 44/1267 | 138/8465 | 3.55e-07 | 3.97e-06 | 2.35e-06 | 44 |
hsa051504 | Cervix | HSIL_HPV | Staphylococcus aureus infection | 21/459 | 96/8465 | 2.93e-08 | 1.43e-06 | 1.16e-06 | 21 |
hsa0491524 | Cervix | HSIL_HPV | Estrogen signaling pathway | 19/459 | 138/8465 | 1.54e-04 | 1.74e-03 | 1.40e-03 | 19 |
hsa0515011 | Cervix | HSIL_HPV | Staphylococcus aureus infection | 21/459 | 96/8465 | 2.93e-08 | 1.43e-06 | 1.16e-06 | 21 |
hsa0491534 | Cervix | HSIL_HPV | Estrogen signaling pathway | 19/459 | 138/8465 | 1.54e-04 | 1.74e-03 | 1.40e-03 | 19 |
hsa051502 | Cervix | N_HPV | Staphylococcus aureus infection | 15/349 | 96/8465 | 7.81e-06 | 1.01e-04 | 7.90e-05 | 15 |
hsa0491543 | Cervix | N_HPV | Estrogen signaling pathway | 16/349 | 138/8465 | 1.68e-04 | 1.53e-03 | 1.19e-03 | 16 |
hsa051503 | Cervix | N_HPV | Staphylococcus aureus infection | 15/349 | 96/8465 | 7.81e-06 | 1.01e-04 | 7.90e-05 | 15 |
hsa0491553 | Cervix | N_HPV | Estrogen signaling pathway | 16/349 | 138/8465 | 1.68e-04 | 1.53e-03 | 1.19e-03 | 16 |
hsa04915 | Colorectum | SER | Estrogen signaling pathway | 38/1580 | 138/8465 | 6.51e-03 | 3.68e-02 | 2.67e-02 | 38 |
hsa049151 | Colorectum | SER | Estrogen signaling pathway | 38/1580 | 138/8465 | 6.51e-03 | 3.68e-02 | 2.67e-02 | 38 |
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 |
KRT18 | SNV | Missense_Mutation | novel | c.741N>T | p.Lys247Asn | p.K247N | P05783 | protein_coding | deleterious(0.01) | probably_damaging(0.949) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KRT18 | SNV | Missense_Mutation | novel | c.625N>A | p.Glu209Lys | p.E209K | P05783 | protein_coding | tolerated(0.05) | possibly_damaging(0.558) | TCGA-AJ-A6NU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KRT18 | SNV | Missense_Mutation | rs76301931 | c.11N>T | p.Thr4Ile | p.T4I | P05783 | protein_coding | tolerated(0.08) | benign(0.066) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KRT18 | SNV | Missense_Mutation | novel | c.1061N>T | p.Ala354Val | p.A354V | P05783 | protein_coding | tolerated(0.07) | benign(0.12) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KRT18 | SNV | Missense_Mutation | novel | c.113G>A | p.Gly38Asp | p.G38D | P05783 | protein_coding | deleterious(0.02) | possibly_damaging(0.594) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KRT18 | SNV | Missense_Mutation | | c.706G>A | p.Glu236Lys | p.E236K | P05783 | protein_coding | deleterious(0.03) | benign(0.25) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
KRT18 | SNV | Missense_Mutation | | c.971T>A | p.Leu324Gln | p.L324Q | P05783 | protein_coding | deleterious(0.01) | possibly_damaging(0.896) | TCGA-RC-A7SK-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
KRT18 | SNV | Missense_Mutation | novel | c.1177N>T | p.Gly393Cys | p.G393C | P05783 | protein_coding | deleterious(0.04) | benign(0.04) | TCGA-55-6981-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | chemo | CR |
KRT18 | SNV | Missense_Mutation | | c.914C>T | p.Ser305Phe | p.S305F | P05783 | protein_coding | deleterious(0.04) | benign(0.119) | TCGA-18-3409-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
KRT18 | SNV | Missense_Mutation | rs148580152 | c.1232N>A | p.Arg411His | p.R411H | P05783 | protein_coding | tolerated(0.33) | benign(0.001) | TCGA-CR-7402-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | SD |