Tissue | Expression Dynamics | Abbreviation |
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:0044282 | Colorectum | AD | small molecule catabolic process | 118/3918 | 376/18723 | 1.05e-06 | 3.55e-05 | 118 |
GO:0009083 | Colorectum | AD | branched-chain amino acid catabolic process | 10/3918 | 15/18723 | 1.68e-04 | 2.29e-03 | 10 |
GO:0016054 | Colorectum | AD | organic acid catabolic process | 73/3918 | 240/18723 | 3.20e-04 | 3.81e-03 | 73 |
GO:0046395 | Colorectum | AD | carboxylic acid catabolic process | 70/3918 | 236/18723 | 9.06e-04 | 8.71e-03 | 70 |
GO:0006520 | Colorectum | AD | cellular amino acid metabolic process | 81/3918 | 284/18723 | 1.37e-03 | 1.19e-02 | 81 |
GO:0009081 | Colorectum | AD | branched-chain amino acid metabolic process | 10/3918 | 19/18723 | 2.25e-03 | 1.77e-02 | 10 |
GO:00090831 | Colorectum | MSS | branched-chain amino acid catabolic process | 10/3467 | 15/18723 | 5.64e-05 | 9.87e-04 | 10 |
GO:00090811 | Colorectum | MSS | branched-chain amino acid metabolic process | 10/3467 | 19/18723 | 8.39e-04 | 8.68e-03 | 10 |
GO:00442822 | Colorectum | MSS | small molecule catabolic process | 94/3467 | 376/18723 | 9.85e-04 | 9.86e-03 | 94 |
GO:00160542 | Colorectum | MSS | organic acid catabolic process | 61/3467 | 240/18723 | 4.72e-03 | 3.31e-02 | 61 |
GO:00442823 | Colorectum | FAP | small molecule catabolic process | 77/2622 | 376/18723 | 3.25e-04 | 4.16e-03 | 77 |
GO:00160543 | Colorectum | FAP | organic acid catabolic process | 50/2622 | 240/18723 | 2.30e-03 | 1.85e-02 | 50 |
GO:00090832 | Colorectum | FAP | branched-chain amino acid catabolic process | 7/2622 | 15/18723 | 2.40e-03 | 1.90e-02 | 7 |
GO:00463951 | Colorectum | FAP | carboxylic acid catabolic process | 48/2622 | 236/18723 | 4.53e-03 | 3.08e-02 | 48 |
GO:00090833 | Colorectum | CRC | branched-chain amino acid catabolic process | 6/2078 | 15/18723 | 3.82e-03 | 3.19e-02 | 6 |
GO:004603416 | Endometrium | AEH | ATP metabolic process | 106/2100 | 277/18723 | 4.13e-32 | 1.24e-28 | 106 |
GO:009719316 | Endometrium | AEH | intrinsic apoptotic signaling pathway | 75/2100 | 288/18723 | 1.46e-12 | 2.83e-10 | 75 |
GO:200123316 | Endometrium | AEH | regulation of apoptotic signaling pathway | 86/2100 | 356/18723 | 2.97e-12 | 4.95e-10 | 86 |
GO:000683910 | Endometrium | AEH | mitochondrial transport | 66/2100 | 254/18723 | 3.55e-11 | 4.96e-09 | 66 |
GO:004578516 | Endometrium | AEH | positive regulation of cell adhesion | 96/2100 | 437/18723 | 5.50e-11 | 7.18e-09 | 96 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0502020 | Endometrium | AEH | Prion disease | 110/1197 | 273/8465 | 2.39e-27 | 2.44e-25 | 1.78e-25 | 110 |
hsa0520826 | Endometrium | AEH | Chemical carcinogenesis - reactive oxygen species | 91/1197 | 223/8465 | 3.28e-23 | 1.33e-21 | 9.76e-22 | 91 |
hsa0501420 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa0501020 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa0502220 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
hsa0451015 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0472216 | Endometrium | AEH | Neurotrophin signaling pathway | 31/1197 | 119/8465 | 4.07e-04 | 3.07e-03 | 2.25e-03 | 31 |
hsa0491920 | Endometrium | AEH | Thyroid hormone signaling pathway | 30/1197 | 121/8465 | 1.20e-03 | 7.52e-03 | 5.50e-03 | 30 |
hsa0541726 | Endometrium | AEH | Lipid and atherosclerosis | 47/1197 | 215/8465 | 1.24e-03 | 7.62e-03 | 5.58e-03 | 47 |
hsa052158 | Endometrium | AEH | Prostate cancer | 25/1197 | 97/8465 | 1.68e-03 | 1.01e-02 | 7.39e-03 | 25 |
hsa0421010 | Endometrium | AEH | Apoptosis | 30/1197 | 136/8465 | 7.72e-03 | 4.05e-02 | 2.96e-02 | 30 |
hsa0517018 | Endometrium | AEH | Human immunodeficiency virus 1 infection | 43/1197 | 212/8465 | 8.19e-03 | 4.22e-02 | 3.09e-02 | 43 |
hsa05020110 | Endometrium | AEH | Prion disease | 110/1197 | 273/8465 | 2.39e-27 | 2.44e-25 | 1.78e-25 | 110 |
hsa05208112 | Endometrium | AEH | Chemical carcinogenesis - reactive oxygen species | 91/1197 | 223/8465 | 3.28e-23 | 1.33e-21 | 9.76e-22 | 91 |
hsa05014110 | Endometrium | AEH | Amyotrophic lateral sclerosis | 123/1197 | 364/8465 | 2.17e-22 | 7.82e-21 | 5.72e-21 | 123 |
hsa05010110 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa05022110 | Endometrium | AEH | Pathways of neurodegeneration - multiple diseases | 137/1197 | 476/8465 | 9.27e-18 | 2.32e-16 | 1.70e-16 | 137 |
hsa0451016 | Endometrium | AEH | Focal adhesion | 58/1197 | 203/8465 | 4.99e-08 | 7.37e-07 | 5.39e-07 | 58 |
hsa0472217 | Endometrium | AEH | Neurotrophin signaling pathway | 31/1197 | 119/8465 | 4.07e-04 | 3.07e-03 | 2.25e-03 | 31 |
hsa04919110 | Endometrium | AEH | Thyroid hormone signaling pathway | 30/1197 | 121/8465 | 1.20e-03 | 7.52e-03 | 5.50e-03 | 30 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
BAD | MYOFIB | Esophagus | ADJ | FIBCD1,SLC22A23,S100A3, etc. | 0.00e+00 | |
BAD | INCAF | Esophagus | ADJ | FIBCD1,SLC22A23,S100A3, etc. | 0.00e+00 | |
BAD | SMC | Esophagus | ESCC | FIBCD1,SLC22A23,S100A3, etc. | 5.49e-03 | |
BAD | FIB | Esophagus | ESCC | FIBCD1,SLC22A23,S100A3, etc. | 0.00e+00 | |
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 |
BAD | SNV | Missense_Mutation | | c.351G>A | p.Met117Ile | p.M117I | Q92934 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
BAD | SNV | Missense_Mutation | | c.293N>A | p.Arg98His | p.R98H | Q92934 | protein_coding | deleterious(0.03) | possibly_damaging(0.688) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
BAD | SNV | Missense_Mutation | | c.57G>C | p.Glu19Asp | p.E19D | Q92934 | protein_coding | tolerated_low_confidence(1) | benign(0.001) | TCGA-4N-A93T-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | SD |
BAD | SNV | Missense_Mutation | rs775688969 | c.74N>A | p.Ser25Asn | p.S25N | Q92934 | protein_coding | tolerated(0.13) | benign(0.409) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
BAD | SNV | Missense_Mutation | novel | c.212G>T | p.Ser71Ile | p.S71I | Q92934 | protein_coding | deleterious(0.01) | possibly_damaging(0.857) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BAD | SNV | Missense_Mutation | novel | c.401N>T | p.Ser134Ile | p.S134I | Q92934 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
BAD | SNV | Missense_Mutation | novel | c.485N>A | p.Gly162Glu | p.G162E | Q92934 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
BAD | SNV | Missense_Mutation | | c.298N>A | p.Ala100Thr | p.A100T | Q92934 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A17R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BAD | SNV | Missense_Mutation | | c.128G>A | p.Gly43Asp | p.G43D | Q92934 | protein_coding | tolerated(0.08) | probably_damaging(1) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
BAD | SNV | Missense_Mutation | | c.483N>T | p.Arg161Ser | p.R161S | Q92934 | protein_coding | deleterious_low_confidence(0) | benign(0.272) | TCGA-CH-5739-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 7 | Unknown | Unknown | SD |