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:000189414 | Cervix | HSIL_HPV | tissue homeostasis | 25/737 | 268/18723 | 6.17e-05 | 1.46e-03 | 25 |
GO:006219715 | Cervix | HSIL_HPV | cellular response to chemical stress | 29/737 | 337/18723 | 7.17e-05 | 1.65e-03 | 29 |
GO:007099715 | Cervix | HSIL_HPV | neuron death | 30/737 | 361/18723 | 1.02e-04 | 2.16e-03 | 30 |
GO:000963614 | Cervix | HSIL_HPV | response to toxic substance | 24/737 | 262/18723 | 1.14e-04 | 2.36e-03 | 24 |
GO:009886914 | Cervix | HSIL_HPV | cellular oxidant detoxification | 13/737 | 101/18723 | 1.64e-04 | 3.14e-03 | 13 |
GO:200037914 | Cervix | HSIL_HPV | positive regulation of reactive oxygen species metabolic process | 11/737 | 76/18723 | 1.81e-04 | 3.43e-03 | 11 |
GO:000756814 | Cervix | HSIL_HPV | aging | 28/737 | 339/18723 | 1.90e-04 | 3.56e-03 | 28 |
GO:003459915 | Cervix | HSIL_HPV | cellular response to oxidative stress | 25/737 | 288/18723 | 1.93e-04 | 3.56e-03 | 25 |
GO:00466888 | Cervix | HSIL_HPV | response to copper ion | 8/737 | 42/18723 | 2.00e-04 | 3.64e-03 | 8 |
GO:009875414 | Cervix | HSIL_HPV | detoxification | 16/737 | 152/18723 | 3.32e-04 | 5.31e-03 | 16 |
GO:004860813 | Cervix | HSIL_HPV | reproductive structure development | 32/737 | 424/18723 | 3.52e-04 | 5.54e-03 | 32 |
GO:009723714 | Cervix | HSIL_HPV | cellular response to toxic substance | 14/737 | 124/18723 | 3.76e-04 | 5.89e-03 | 14 |
GO:006145814 | Cervix | HSIL_HPV | reproductive system development | 32/737 | 427/18723 | 3.98e-04 | 6.14e-03 | 32 |
GO:0050665 | Cervix | HSIL_HPV | hydrogen peroxide biosynthetic process | 5/737 | 18/18723 | 5.21e-04 | 7.47e-03 | 5 |
GO:00469166 | Cervix | HSIL_HPV | cellular transition metal ion homeostasis | 13/737 | 115/18723 | 5.95e-04 | 8.37e-03 | 13 |
GO:001407511 | Cervix | HSIL_HPV | response to amine | 8/737 | 49/18723 | 5.99e-04 | 8.37e-03 | 8 |
GO:199074814 | Cervix | HSIL_HPV | cellular detoxification | 13/737 | 116/18723 | 6.46e-04 | 8.85e-03 | 13 |
GO:000926613 | Cervix | HSIL_HPV | response to temperature stimulus | 17/737 | 178/18723 | 6.81e-04 | 9.17e-03 | 17 |
GO:006024913 | Cervix | HSIL_HPV | anatomical structure homeostasis | 25/737 | 314/18723 | 7.04e-04 | 9.40e-03 | 25 |
GO:190340911 | Cervix | HSIL_HPV | reactive oxygen species biosynthetic process | 9/737 | 64/18723 | 8.56e-04 | 1.10e-02 | 9 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0520818 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0520819 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
hsa0501224 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502023 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0501623 | Breast | IDC | Huntington disease | 103/867 | 306/8465 | 5.14e-30 | 4.17e-28 | 3.12e-28 | 103 |
hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0520824 | Breast | IDC | Chemical carcinogenesis - reactive oxygen species | 71/867 | 223/8465 | 2.55e-19 | 7.53e-18 | 5.63e-18 | 71 |
hsa0501234 | Breast | IDC | Parkinson disease | 107/867 | 266/8465 | 2.57e-39 | 8.36e-37 | 6.26e-37 | 107 |
hsa0502033 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
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 |
SOD1 | SNV | Missense_Mutation | | c.315N>G | p.Ile105Met | p.I105M | P00441 | protein_coding | deleterious(0.02) | probably_damaging(0.969) | TCGA-A2-A04W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
SOD1 | SNV | Missense_Mutation | | c.224N>T | p.Pro75Leu | p.P75L | P00441 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A18J-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SOD1 | SNV | Missense_Mutation | novel | c.109N>C | p.Lys37Gln | p.K37Q | P00441 | protein_coding | tolerated(0.08) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SOD1 | SNV | Missense_Mutation | | c.32N>T | p.Gly11Val | p.G11V | P00441 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOD1 | SNV | Missense_Mutation | | c.446N>C | p.Val149Ala | p.V149A | P00441 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOD1 | SNV | Missense_Mutation | | c.331N>A | p.His111Asn | p.H111N | P00441 | protein_coding | tolerated(0.7) | benign(0.005) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SOD1 | SNV | Missense_Mutation | rs121912459 | c.289N>A | p.Asp97Asn | p.D97N | P00441 | protein_coding | tolerated(0.29) | benign(0) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SOD1 | SNV | Missense_Mutation | novel | c.239G>T | p.Arg80Met | p.R80M | P00441 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
SOD1 | SNV | Missense_Mutation | novel | c.8C>T | p.Thr3Met | p.T3M | P00441 | protein_coding | tolerated(0.31) | benign(0) | TCGA-AX-A3FX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
SOD1 | SNV | Missense_Mutation | | c.268N>A | p.Ala90Thr | p.A90T | P00441 | protein_coding | tolerated(0.17) | probably_damaging(0.976) | TCGA-BG-A0MG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |