Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
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:004873227 | Skin | cSCC | gland development | 167/4864 | 436/18723 | 7.64e-09 | 2.44e-07 | 167 |
GO:004854529 | Skin | cSCC | response to steroid hormone | 135/4864 | 339/18723 | 1.34e-08 | 4.09e-07 | 135 |
GO:004254227 | Skin | cSCC | response to hydrogen peroxide | 68/4864 | 146/18723 | 6.10e-08 | 1.56e-06 | 68 |
GO:003052227 | Skin | cSCC | intracellular receptor signaling pathway | 108/4864 | 265/18723 | 9.21e-08 | 2.21e-06 | 108 |
GO:000762323 | Skin | cSCC | circadian rhythm | 89/4864 | 210/18723 | 1.55e-07 | 3.51e-06 | 89 |
GO:190332217 | Skin | cSCC | positive regulation of protein modification by small protein conjugation or removal | 64/4864 | 138/18723 | 1.79e-07 | 3.94e-06 | 64 |
GO:0030518110 | Skin | cSCC | intracellular steroid hormone receptor signaling pathway | 56/4864 | 116/18723 | 1.97e-07 | 4.28e-06 | 56 |
GO:0071383111 | Skin | cSCC | cellular response to steroid hormone stimulus | 84/4864 | 204/18723 | 1.44e-06 | 2.48e-05 | 84 |
GO:0043401110 | Skin | cSCC | steroid hormone mediated signaling pathway | 60/4864 | 136/18723 | 3.33e-06 | 5.10e-05 | 60 |
GO:003139817 | Skin | cSCC | positive regulation of protein ubiquitination | 54/4864 | 119/18723 | 3.61e-06 | 5.49e-05 | 54 |
GO:1901654112 | Skin | cSCC | response to ketone | 79/4864 | 194/18723 | 4.82e-06 | 7.06e-05 | 79 |
GO:004851123 | Skin | cSCC | rhythmic process | 110/4864 | 298/18723 | 1.83e-05 | 2.19e-04 | 110 |
GO:006145825 | Skin | cSCC | reproductive system development | 149/4864 | 427/18723 | 2.30e-05 | 2.65e-04 | 149 |
GO:004860824 | Skin | cSCC | reproductive structure development | 148/4864 | 424/18723 | 2.40e-05 | 2.74e-04 | 148 |
GO:0030521110 | Skin | cSCC | androgen receptor signaling pathway | 24/4864 | 44/18723 | 5.16e-05 | 5.28e-04 | 24 |
GO:000975518 | Skin | cSCC | hormone-mediated signaling pathway | 72/4864 | 190/18723 | 1.92e-04 | 1.61e-03 | 72 |
GO:199009019 | Skin | cSCC | cellular response to nerve growth factor stimulus | 26/4864 | 53/18723 | 2.58e-04 | 2.10e-03 | 26 |
GO:006099821 | Skin | cSCC | regulation of dendritic spine development | 28/4864 | 61/18723 | 6.07e-04 | 4.38e-03 | 28 |
GO:004275221 | Skin | cSCC | regulation of circadian rhythm | 48/4864 | 121/18723 | 6.58e-04 | 4.73e-03 | 48 |
GO:199008918 | Skin | cSCC | response to nerve growth factor | 26/4864 | 56/18723 | 7.59e-04 | 5.27e-03 | 26 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0412014 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0412015 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa04120 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
hsa041201 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
hsa041202 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041203 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041204 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041205 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041206 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa041207 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa041208 | Colorectum | CRC | Ubiquitin mediated proteolysis | 42/1091 | 142/8465 | 9.98e-08 | 6.67e-06 | 4.52e-06 | 42 |
hsa041209 | Colorectum | CRC | Ubiquitin mediated proteolysis | 42/1091 | 142/8465 | 9.98e-08 | 6.67e-06 | 4.52e-06 | 42 |
hsa052039 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
hsa0520315 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
hsa0412027 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0520325 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
hsa0412036 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
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 |
UBE3A | SNV | Missense_Mutation | novel | c.2381N>A | p.Val794Asp | p.V794D | Q05086 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
UBE3A | SNV | Missense_Mutation | novel | c.253C>T | p.Pro85Ser | p.P85S | Q05086 | protein_coding | tolerated(0.5) | benign(0.001) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
UBE3A | SNV | Missense_Mutation | | c.1005N>C | p.Gln335His | p.Q335H | Q05086 | protein_coding | tolerated(0.52) | benign(0.003) | TCGA-AR-A1AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
UBE3A | insertion | Nonsense_Mutation | novel | c.123_124insTTGTTGCTTCAGAGTGTATAAT | p.Glu42LeufsTer7 | p.E42Lfs*7 | Q05086 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
UBE3A | deletion | Frame_Shift_Del | | c.1990delN | p.Asp664IlefsTer13 | p.D664Ifs*13 | Q05086 | protein_coding | | | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
UBE3A | deletion | Frame_Shift_Del | | c.2436_2446delNNNNNNNNNNN | p.Asp813CysfsTer29 | p.D813Cfs*29 | Q05086 | protein_coding | | | TCGA-E9-A249-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
UBE3A | SNV | Missense_Mutation | novel | c.1265N>A | p.Gly422Asp | p.G422D | Q05086 | protein_coding | tolerated(0.58) | possibly_damaging(0.521) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
UBE3A | SNV | Missense_Mutation | novel | c.214N>T | p.Ala72Ser | p.A72S | Q05086 | protein_coding | tolerated(0.08) | probably_damaging(0.915) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
UBE3A | SNV | Missense_Mutation | novel | c.272G>A | p.Gly91Glu | p.G91E | Q05086 | protein_coding | tolerated(1) | benign(0.001) | TCGA-C5-A1BL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
UBE3A | SNV | Missense_Mutation | | c.1195G>C | p.Glu399Gln | p.E399Q | Q05086 | protein_coding | tolerated(0.2) | benign(0.135) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |