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:005188118 | Skin | cSCC | regulation of mitochondrial membrane potential | 38/4864 | 74/18723 | 2.67e-06 | 4.28e-05 | 38 |
GO:007099729 | Skin | cSCC | neuron death | 133/4864 | 361/18723 | 2.91e-06 | 4.58e-05 | 133 |
GO:000226229 | Skin | cSCC | myeloid cell homeostasis | 67/4864 | 157/18723 | 3.79e-06 | 5.70e-05 | 67 |
GO:004887229 | Skin | cSCC | homeostasis of number of cells | 104/4864 | 272/18723 | 5.34e-06 | 7.71e-05 | 104 |
GO:1902175111 | Skin | cSCC | regulation of oxidative stress-induced intrinsic apoptotic signaling pathway | 19/4864 | 29/18723 | 8.84e-06 | 1.17e-04 | 19 |
GO:006145825 | Skin | cSCC | reproductive system development | 149/4864 | 427/18723 | 2.30e-05 | 2.65e-04 | 149 |
GO:003070524 | Skin | cSCC | cytoskeleton-dependent intracellular transport | 77/4864 | 195/18723 | 2.32e-05 | 2.67e-04 | 77 |
GO:004860824 | Skin | cSCC | reproductive structure development | 148/4864 | 424/18723 | 2.40e-05 | 2.74e-04 | 148 |
GO:000189024 | Skin | cSCC | placenta development | 60/4864 | 144/18723 | 2.84e-05 | 3.17e-04 | 60 |
GO:001003829 | Skin | cSCC | response to metal ion | 132/4864 | 373/18723 | 3.11e-05 | 3.42e-04 | 132 |
GO:000206426 | Skin | cSCC | epithelial cell development | 84/4864 | 220/18723 | 4.33e-05 | 4.56e-04 | 84 |
GO:0034614111 | Skin | cSCC | cellular response to reactive oxygen species | 63/4864 | 155/18723 | 4.50e-05 | 4.72e-04 | 63 |
GO:000991324 | Skin | cSCC | epidermal cell differentiation | 78/4864 | 202/18723 | 5.12e-05 | 5.28e-04 | 78 |
GO:005507618 | Skin | cSCC | transition metal ion homeostasis | 57/4864 | 138/18723 | 5.96e-05 | 5.86e-04 | 57 |
GO:00065758 | Skin | cSCC | cellular modified amino acid metabolic process | 73/4864 | 188/18723 | 7.11e-05 | 6.85e-04 | 73 |
GO:003166728 | Skin | cSCC | response to nutrient levels | 160/4864 | 474/18723 | 8.44e-05 | 8.02e-04 | 160 |
GO:004668624 | Skin | cSCC | response to cadmium ion | 32/4864 | 68/18723 | 1.44e-04 | 1.29e-03 | 32 |
GO:004691610 | Skin | cSCC | cellular transition metal ion homeostasis | 48/4864 | 115/18723 | 1.63e-04 | 1.43e-03 | 48 |
GO:190121426 | Skin | cSCC | regulation of neuron death | 112/4864 | 319/18723 | 1.71e-04 | 1.48e-03 | 112 |
GO:0036473111 | Skin | cSCC | cell death in response to oxidative stress | 41/4864 | 95/18723 | 2.02e-04 | 1.68e-03 | 41 |
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 |