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 |
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 |
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 |
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:000941018 | Oral cavity | OSCC | response to xenobiotic stimulus | 222/7305 | 462/18723 | 4.00e-05 | 3.48e-04 | 222 |
GO:00601356 | Oral cavity | OSCC | maternal process involved in female pregnancy | 39/7305 | 62/18723 | 1.19e-04 | 8.54e-04 | 39 |
GO:00066317 | Oral cavity | OSCC | fatty acid metabolic process | 186/7305 | 390/18723 | 2.65e-04 | 1.69e-03 | 186 |
GO:00075657 | Oral cavity | OSCC | female pregnancy | 98/7305 | 193/18723 | 5.66e-04 | 3.27e-03 | 98 |
GO:005087819 | Oral cavity | OSCC | regulation of body fluid levels | 179/7305 | 379/18723 | 6.19e-04 | 3.50e-03 | 179 |
GO:003196018 | Oral cavity | OSCC | response to corticosteroid | 86/7305 | 167/18723 | 6.79e-04 | 3.79e-03 | 86 |
GO:000930610 | Oral cavity | OSCC | protein secretion | 169/7305 | 359/18723 | 1.04e-03 | 5.34e-03 | 169 |
GO:003559210 | Oral cavity | OSCC | establishment of protein localization to extracellular region | 169/7305 | 360/18723 | 1.21e-03 | 6.08e-03 | 169 |
GO:00716929 | Oral cavity | OSCC | protein localization to extracellular region | 172/7305 | 368/18723 | 1.40e-03 | 6.79e-03 | 172 |
GO:005138418 | Oral cavity | OSCC | response to glucocorticoid | 76/7305 | 148/18723 | 1.49e-03 | 7.15e-03 | 76 |
GO:00507089 | Oral cavity | OSCC | regulation of protein secretion | 126/7305 | 268/18723 | 4.41e-03 | 1.79e-02 | 126 |
GO:003087910 | Oral cavity | OSCC | mammary gland development | 69/7305 | 137/18723 | 4.43e-03 | 1.79e-02 | 69 |
GO:00447067 | Oral cavity | OSCC | multi-multicellular organism process | 105/7305 | 220/18723 | 5.05e-03 | 1.97e-02 | 105 |
GO:004668810 | Oral cavity | OSCC | response to copper ion | 25/7305 | 42/18723 | 5.63e-03 | 2.17e-02 | 25 |
GO:003297026 | Oral cavity | EOLP | regulation of actin filament-based process | 93/2218 | 397/18723 | 5.39e-11 | 7.03e-09 | 93 |
GO:003295626 | Oral cavity | EOLP | regulation of actin cytoskeleton organization | 84/2218 | 358/18723 | 4.24e-10 | 3.65e-08 | 84 |
GO:004851117 | Oral cavity | EOLP | rhythmic process | 69/2218 | 298/18723 | 2.68e-08 | 1.11e-06 | 69 |
GO:004854526 | Oral cavity | EOLP | response to steroid hormone | 75/2218 | 339/18723 | 5.18e-08 | 1.92e-06 | 75 |
GO:000166624 | Oral cavity | EOLP | response to hypoxia | 65/2218 | 307/18723 | 2.00e-06 | 4.55e-05 | 65 |
GO:007048224 | Oral cavity | EOLP | response to oxygen levels | 70/2218 | 347/18723 | 5.00e-06 | 1.02e-04 | 70 |
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 |
PAM | SNV | Missense_Mutation | novel | c.371N>T | p.Gly124Val | p.G124V | P19021 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
PAM | SNV | Missense_Mutation | rs752414913 | c.2119C>T | p.Arg707Trp | p.R707W | P19021 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PAM | SNV | Missense_Mutation | rs771873156 | c.2710N>A | p.Glu904Lys | p.E904K | P19021 | protein_coding | tolerated(0.06) | benign(0.308) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PAM | SNV | Missense_Mutation | | c.239N>C | p.Arg80Pro | p.R80P | P19021 | protein_coding | tolerated(0.95) | benign(0.007) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
PAM | SNV | Missense_Mutation | | c.2333A>G | p.His778Arg | p.H778R | P19021 | protein_coding | tolerated(0.34) | benign(0) | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAM | SNV | Missense_Mutation | novel | c.2433N>C | p.Lys811Asn | p.K811N | P19021 | protein_coding | tolerated(0.05) | benign(0.018) | TCGA-EW-A1PC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
PAM | deletion | Frame_Shift_Del | novel | c.673delN | p.Asn226IlefsTer16 | p.N226Ifs*16 | P19021 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PAM | SNV | Missense_Mutation | novel | c.304C>T | p.His102Tyr | p.H102Y | P19021 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PAM | SNV | Missense_Mutation | | c.1175N>T | p.Ser392Leu | p.S392L | P19021 | protein_coding | tolerated(0.07) | probably_damaging(0.992) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PAM | SNV | Missense_Mutation | | c.2038N>T | p.Pro680Ser | p.P680S | P19021 | protein_coding | deleterious(0.05) | possibly_damaging(0.632) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |