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:00321035 | Cervix | CC | positive regulation of response to external stimulus | 95/2311 | 427/18723 | 5.44e-09 | 5.03e-07 | 95 |
GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
GO:00447725 | Cervix | CC | mitotic cell cycle phase transition | 89/2311 | 424/18723 | 2.70e-07 | 1.12e-05 | 89 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:20000453 | Cervix | CC | regulation of G1/S transition of mitotic cell cycle | 37/2311 | 142/18723 | 6.33e-06 | 1.53e-04 | 37 |
GO:00457876 | Cervix | CC | positive regulation of cell cycle | 66/2311 | 313/18723 | 7.78e-06 | 1.81e-04 | 66 |
GO:00000824 | Cervix | CC | G1/S transition of mitotic cell cycle | 49/2311 | 214/18723 | 1.16e-05 | 2.48e-04 | 49 |
GO:19028062 | Cervix | CC | regulation of cell cycle G1/S phase transition | 41/2311 | 168/18723 | 1.18e-05 | 2.51e-04 | 41 |
GO:00073466 | Cervix | CC | regulation of mitotic cell cycle | 88/2311 | 457/18723 | 1.26e-05 | 2.60e-04 | 88 |
GO:19019903 | Cervix | CC | regulation of mitotic cell cycle phase transition | 63/2311 | 299/18723 | 1.27e-05 | 2.60e-04 | 63 |
GO:00448434 | Cervix | CC | cell cycle G1/S phase transition | 53/2311 | 241/18723 | 1.76e-05 | 3.32e-04 | 53 |
GO:00028315 | Cervix | CC | regulation of response to biotic stimulus | 67/2311 | 327/18723 | 1.79e-05 | 3.36e-04 | 67 |
GO:00459316 | Cervix | CC | positive regulation of mitotic cell cycle | 32/2311 | 121/18723 | 1.88e-05 | 3.47e-04 | 32 |
GO:00096158 | Cervix | CC | response to virus | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
GO:19019922 | Cervix | CC | positive regulation of mitotic cell cycle phase transition | 26/2311 | 93/18723 | 3.97e-05 | 6.18e-04 | 26 |
GO:00431228 | Cervix | CC | regulation of I-kappaB kinase/NF-kappaB signaling | 53/2311 | 249/18723 | 4.50e-05 | 6.87e-04 | 53 |
GO:00900685 | Cervix | CC | positive regulation of cell cycle process | 50/2311 | 236/18723 | 8.25e-05 | 1.11e-03 | 50 |
GO:19019873 | Cervix | CC | regulation of cell cycle phase transition | 74/2311 | 390/18723 | 9.80e-05 | 1.27e-03 | 74 |
GO:00022212 | Cervix | CC | pattern recognition receptor signaling pathway | 39/2311 | 172/18723 | 1.08e-04 | 1.38e-03 | 39 |
GO:00622073 | Cervix | CC | regulation of pattern recognition receptor signaling pathway | 27/2311 | 105/18723 | 1.37e-04 | 1.68e-03 | 27 |
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 |
ANKRD17 | SNV | Missense_Mutation | novel | c.5167N>T | p.Val1723Phe | p.V1723F | O75179 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
ANKRD17 | SNV | Missense_Mutation | novel | c.259N>A | p.Glu87Lys | p.E87K | O75179 | protein_coding | deleterious_low_confidence(0) | benign(0.001) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR |
ANKRD17 | SNV | Missense_Mutation | | c.1460T>C | p.Ile487Thr | p.I487T | O75179 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ANKRD17 | SNV | Missense_Mutation | novel | c.2864N>A | p.Pro955His | p.P955H | O75179 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.533) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ANKRD17 | SNV | Missense_Mutation | | c.427G>A | p.Glu143Lys | p.E143K | O75179 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.503) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANKRD17 | SNV | Missense_Mutation | | c.920C>T | p.Ala307Val | p.A307V | O75179 | protein_coding | tolerated(0.09) | probably_damaging(0.968) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD17 | SNV | Missense_Mutation | novel | c.5234G>A | p.Gly1745Asp | p.G1745D | O75179 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD17 | SNV | Missense_Mutation | | c.2777N>G | p.Tyr926Cys | p.Y926C | O75179 | protein_coding | tolerated_low_confidence(0.15) | benign(0.003) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANKRD17 | SNV | Missense_Mutation | novel | c.3031A>G | p.Met1011Val | p.M1011V | O75179 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.824) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ANKRD17 | SNV | Missense_Mutation | | c.1177A>G | p.Ile393Val | p.I393V | O75179 | protein_coding | tolerated(0.24) | probably_damaging(0.958) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |