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 |
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:001063118 | Oral cavity | OSCC | epithelial cell migration | 174/7305 | 357/18723 | 1.04e-04 | 7.70e-04 | 174 |
GO:004352518 | Oral cavity | OSCC | positive regulation of neuron apoptotic process | 37/7305 | 58/18723 | 1.15e-04 | 8.35e-04 | 37 |
GO:009013218 | Oral cavity | OSCC | epithelium migration | 175/7305 | 360/18723 | 1.18e-04 | 8.54e-04 | 175 |
GO:00321037 | Oral cavity | OSCC | positive regulation of response to external stimulus | 203/7305 | 427/18723 | 1.79e-04 | 1.22e-03 | 203 |
GO:009013018 | Oral cavity | OSCC | tissue migration | 176/7305 | 365/18723 | 1.92e-04 | 1.29e-03 | 176 |
GO:00519624 | Oral cavity | OSCC | positive regulation of nervous system development | 135/7305 | 272/18723 | 2.20e-04 | 1.44e-03 | 135 |
GO:001097510 | Oral cavity | OSCC | regulation of neuron projection development | 210/7305 | 445/18723 | 2.35e-04 | 1.52e-03 | 210 |
GO:000268310 | Oral cavity | OSCC | negative regulation of immune system process | 204/7305 | 434/18723 | 3.72e-04 | 2.27e-03 | 204 |
GO:190303418 | Oral cavity | OSCC | regulation of response to wounding | 87/7305 | 167/18723 | 3.91e-04 | 2.38e-03 | 87 |
GO:005067810 | Oral cavity | OSCC | regulation of epithelial cell proliferation | 180/7305 | 381/18723 | 5.88e-04 | 3.35e-03 | 180 |
GO:19012159 | Oral cavity | OSCC | negative regulation of neuron death | 104/7305 | 208/18723 | 7.90e-04 | 4.27e-03 | 104 |
GO:004308710 | Oral cavity | OSCC | regulation of GTPase activity | 165/7305 | 348/18723 | 7.94e-04 | 4.27e-03 | 165 |
GO:00519605 | Oral cavity | OSCC | regulation of nervous system development | 205/7305 | 443/18723 | 9.80e-04 | 5.11e-03 | 205 |
GO:00458244 | Oral cavity | OSCC | negative regulation of innate immune response | 41/7305 | 71/18723 | 1.05e-03 | 5.40e-03 | 41 |
GO:00507774 | Oral cavity | OSCC | negative regulation of immune response | 97/7305 | 194/18723 | 1.16e-03 | 5.91e-03 | 97 |
GO:00083332 | Oral cavity | OSCC | endosome to lysosome transport | 33/7305 | 55/18723 | 1.30e-03 | 6.46e-03 | 33 |
GO:004592710 | Oral cavity | OSCC | positive regulation of growth | 125/7305 | 259/18723 | 1.44e-03 | 6.97e-03 | 125 |
GO:00100015 | Oral cavity | OSCC | glial cell differentiation | 110/7305 | 225/18723 | 1.56e-03 | 7.45e-03 | 110 |
GO:00070352 | Oral cavity | OSCC | vacuolar acidification | 17/7305 | 24/18723 | 1.59e-03 | 7.56e-03 | 17 |
GO:00486784 | Oral cavity | OSCC | response to axon injury | 46/7305 | 83/18723 | 1.76e-03 | 8.31e-03 | 46 |
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 |
GRN | SNV | Missense_Mutation | novel | c.340N>G | p.Gln114Glu | p.Q114E | P28799 | protein_coding | tolerated(0.45) | benign(0.257) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
GRN | SNV | Missense_Mutation | novel | c.1623G>T | p.Trp541Cys | p.W541C | P28799 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B6-A402-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | PD |
GRN | SNV | Missense_Mutation | | c.1292N>T | p.Ala431Val | p.A431V | P28799 | protein_coding | deleterious(0.04) | benign(0.037) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GRN | insertion | Frame_Shift_Ins | novel | c.159_160insGCTA | p.Ser54AlafsTer12 | p.S54Afs*12 | P28799 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
GRN | insertion | In_Frame_Ins | novel | c.161_162insTGAAAGAAGCCAGTTGCAGAT | p.Ser54_Arg55insGluArgSerGlnLeuGlnIle | p.S54_R55insERSQLQI | P28799 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
GRN | deletion | Frame_Shift_Del | novel | c.1015delN | p.His340ThrfsTer21 | p.H340Tfs*21 | P28799 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
GRN | deletion | Frame_Shift_Del | novel | c.1331delG | p.Cys444LeufsTer47 | p.C444Lfs*47 | P28799 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
GRN | SNV | Missense_Mutation | | c.1404N>C | p.Gln468His | p.Q468H | P28799 | protein_coding | tolerated(0.08) | probably_damaging(0.909) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GRN | SNV | Missense_Mutation | rs751651838 | c.529N>T | p.Arg177Cys | p.R177C | P28799 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
GRN | SNV | Missense_Mutation | | c.104G>A | p.Gly35Glu | p.G35E | P28799 | protein_coding | tolerated(0.09) | benign(0.129) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |