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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:00510142 | Colorectum | MSS | actin filament severing | 8/3467 | 16/18723 | 4.27e-03 | 3.04e-02 | 8 |
GO:00164852 | Colorectum | MSS | protein processing | 57/3467 | 225/18723 | 6.60e-03 | 4.38e-02 | 57 |
GO:00325062 | Colorectum | MSS | cytokinetic process | 14/3467 | 39/18723 | 7.79e-03 | 4.84e-02 | 14 |
GO:0006509 | Colorectum | MSS | membrane protein ectodomain proteolysis | 15/3467 | 43/18723 | 8.06e-03 | 4.91e-02 | 15 |
GO:00226043 | Colorectum | MSI-H | regulation of cell morphogenesis | 45/1319 | 309/18723 | 2.70e-06 | 1.54e-04 | 45 |
GO:00341093 | Colorectum | MSI-H | homotypic cell-cell adhesion | 20/1319 | 90/18723 | 3.43e-06 | 1.89e-04 | 20 |
GO:00300993 | Colorectum | MSI-H | myeloid cell differentiation | 50/1319 | 381/18723 | 1.52e-05 | 6.62e-04 | 50 |
GO:00458623 | Colorectum | MSI-H | positive regulation of proteolysis | 49/1319 | 372/18723 | 1.67e-05 | 7.15e-04 | 49 |
GO:00329703 | Colorectum | MSI-H | regulation of actin filament-based process | 49/1319 | 397/18723 | 8.99e-05 | 2.90e-03 | 49 |
GO:00302243 | Colorectum | MSI-H | monocyte differentiation | 9/1319 | 36/18723 | 6.88e-04 | 1.32e-02 | 9 |
GO:00106313 | Colorectum | MSI-H | epithelial cell migration | 42/1319 | 357/18723 | 7.51e-04 | 1.42e-02 | 42 |
GO:00901323 | Colorectum | MSI-H | epithelium migration | 42/1319 | 360/18723 | 8.89e-04 | 1.58e-02 | 42 |
GO:00901303 | Colorectum | MSI-H | tissue migration | 42/1319 | 365/18723 | 1.17e-03 | 1.92e-02 | 42 |
GO:00420603 | Colorectum | MSI-H | wound healing | 47/1319 | 422/18723 | 1.23e-03 | 2.00e-02 | 47 |
GO:00705273 | Colorectum | MSI-H | platelet aggregation | 12/1319 | 67/18723 | 2.29e-03 | 3.07e-02 | 12 |
GO:00516043 | Colorectum | MSI-H | protein maturation | 34/1319 | 294/18723 | 3.02e-03 | 3.80e-02 | 34 |
GO:00025732 | Colorectum | MSI-H | myeloid leukocyte differentiation | 26/1319 | 208/18723 | 3.15e-03 | 3.91e-02 | 26 |
GO:00508783 | Colorectum | MSI-H | regulation of body fluid levels | 41/1319 | 379/18723 | 4.10e-03 | 4.67e-02 | 41 |
GO:00329704 | Colorectum | FAP | regulation of actin filament-based process | 105/2622 | 397/18723 | 3.15e-11 | 1.38e-08 | 105 |
GO:00226044 | Colorectum | FAP | regulation of cell morphogenesis | 87/2622 | 309/18723 | 4.89e-11 | 1.87e-08 | 87 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513018 | Breast | Precancer | Pathogenic Escherichia coli infection | 38/684 | 197/8465 | 3.12e-07 | 5.81e-06 | 4.45e-06 | 38 |
hsa0453018 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
hsa0513019 | Breast | Precancer | Pathogenic Escherichia coli infection | 38/684 | 197/8465 | 3.12e-07 | 5.81e-06 | 4.45e-06 | 38 |
hsa0453019 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
hsa0453024 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
hsa0513024 | Breast | IDC | Pathogenic Escherichia coli infection | 42/867 | 197/8465 | 2.66e-06 | 3.92e-05 | 2.94e-05 | 42 |
hsa0481014 | Breast | IDC | Regulation of actin cytoskeleton | 36/867 | 229/8465 | 5.79e-03 | 3.13e-02 | 2.34e-02 | 36 |
hsa0453034 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
hsa0513034 | Breast | IDC | Pathogenic Escherichia coli infection | 42/867 | 197/8465 | 2.66e-06 | 3.92e-05 | 2.94e-05 | 42 |
hsa0481015 | Breast | IDC | Regulation of actin cytoskeleton | 36/867 | 229/8465 | 5.79e-03 | 3.13e-02 | 2.34e-02 | 36 |
hsa0513043 | Breast | DCIS | Pathogenic Escherichia coli infection | 42/846 | 197/8465 | 1.40e-06 | 2.15e-05 | 1.59e-05 | 42 |
hsa0453044 | Breast | DCIS | Tight junction | 37/846 | 169/8465 | 3.07e-06 | 4.20e-05 | 3.09e-05 | 37 |
hsa0481023 | Breast | DCIS | Regulation of actin cytoskeleton | 35/846 | 229/8465 | 6.89e-03 | 3.37e-02 | 2.48e-02 | 35 |
hsa0513053 | Breast | DCIS | Pathogenic Escherichia coli infection | 42/846 | 197/8465 | 1.40e-06 | 2.15e-05 | 1.59e-05 | 42 |
hsa0453054 | Breast | DCIS | Tight junction | 37/846 | 169/8465 | 3.07e-06 | 4.20e-05 | 3.09e-05 | 37 |
hsa0481033 | Breast | DCIS | Regulation of actin cytoskeleton | 35/846 | 229/8465 | 6.89e-03 | 3.37e-02 | 2.48e-02 | 35 |
hsa0513020 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
hsa0481016 | Cervix | CC | Regulation of actin cytoskeleton | 64/1267 | 229/8465 | 2.24e-07 | 2.59e-06 | 1.53e-06 | 64 |
hsa0453020 | Cervix | CC | Tight junction | 49/1267 | 169/8465 | 1.87e-06 | 1.78e-05 | 1.05e-05 | 49 |
hsa05130110 | Cervix | CC | Pathogenic Escherichia coli infection | 63/1267 | 197/8465 | 9.28e-10 | 2.00e-08 | 1.19e-08 | 63 |
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 |
MYH9 | SNV | Missense_Mutation | novel | c.2176C>T | p.Pro726Ser | p.P726S | P35579 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MYH9 | SNV | Missense_Mutation | novel | c.1393N>C | p.Glu465Gln | p.E465Q | P35579 | protein_coding | deleterious(0) | possibly_damaging(0.823) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
MYH9 | SNV | Missense_Mutation | | c.3031N>C | p.Glu1011Gln | p.E1011Q | P35579 | protein_coding | deleterious(0.02) | probably_damaging(0.973) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
MYH9 | SNV | Missense_Mutation | rs371410108 | c.4975G>A | p.Ala1659Thr | p.A1659T | P35579 | protein_coding | tolerated(0.33) | benign(0.045) | TCGA-A7-A4SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MYH9 | SNV | Missense_Mutation | novel | c.2843N>G | p.Leu948Arg | p.L948R | P35579 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
MYH9 | SNV | Missense_Mutation | | c.274N>G | p.Leu92Val | p.L92V | P35579 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MYH9 | SNV | Missense_Mutation | | c.3341N>G | p.Ser1114Cys | p.S1114C | P35579 | protein_coding | deleterious(0.01) | possibly_damaging(0.676) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MYH9 | SNV | Missense_Mutation | rs140032888 | c.2221G>A | p.Val741Met | p.V741M | P35579 | protein_coding | tolerated(0.08) | benign(0.125) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYH9 | SNV | Missense_Mutation | | c.3086N>C | p.Ile1029Thr | p.I1029T | P35579 | protein_coding | deleterious(0.01) | possibly_damaging(0.71) | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR |
MYH9 | SNV | Missense_Mutation | novel | c.1492N>A | p.Glu498Lys | p.E498K | P35579 | protein_coding | deleterious(0.04) | benign(0.345) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |