Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
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:007147824 | Skin | cSCC | cellular response to radiation | 86/4864 | 186/18723 | 1.81e-09 | 6.67e-08 | 86 |
GO:007121425 | Skin | cSCC | cellular response to abiotic stimulus | 135/4864 | 331/18723 | 2.26e-09 | 8.11e-08 | 135 |
GO:010400425 | Skin | cSCC | cellular response to environmental stimulus | 135/4864 | 331/18723 | 2.26e-09 | 8.11e-08 | 135 |
GO:0050792112 | Skin | cSCC | regulation of viral process | 77/4864 | 164/18723 | 5.38e-09 | 1.78e-07 | 77 |
GO:00905014 | Skin | cSCC | RNA phosphodiester bond hydrolysis | 71/4864 | 152/18723 | 2.72e-08 | 7.41e-07 | 71 |
GO:0045069111 | Skin | cSCC | regulation of viral genome replication | 46/4864 | 85/18723 | 3.08e-08 | 8.30e-07 | 46 |
GO:003139729 | Skin | cSCC | negative regulation of protein ubiquitination | 45/4864 | 83/18723 | 4.04e-08 | 1.05e-06 | 45 |
GO:190332129 | Skin | cSCC | negative regulation of protein modification by small protein conjugation or removal | 49/4864 | 95/18723 | 8.44e-08 | 2.04e-06 | 49 |
GO:1903900112 | Skin | cSCC | regulation of viral life cycle | 68/4864 | 148/18723 | 1.17e-07 | 2.77e-06 | 68 |
GO:000941114 | Skin | cSCC | response to UV | 68/4864 | 149/18723 | 1.62e-07 | 3.62e-06 | 68 |
GO:003464414 | Skin | cSCC | cellular response to UV | 46/4864 | 90/18723 | 2.95e-07 | 6.01e-06 | 46 |
GO:190336325 | Skin | cSCC | negative regulation of cellular protein catabolic process | 40/4864 | 75/18723 | 4.04e-07 | 7.92e-06 | 40 |
GO:000931424 | Skin | cSCC | response to radiation | 166/4864 | 456/18723 | 4.37e-07 | 8.41e-06 | 166 |
GO:200005926 | Skin | cSCC | negative regulation of ubiquitin-dependent protein catabolic process | 29/4864 | 48/18723 | 4.95e-07 | 9.49e-06 | 29 |
GO:003243523 | Skin | cSCC | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 23/4864 | 35/18723 | 9.13e-07 | 1.66e-05 | 23 |
GO:190305124 | Skin | cSCC | negative regulation of proteolysis involved in cellular protein catabolic process | 34/4864 | 64/18723 | 3.31e-06 | 5.09e-05 | 34 |
GO:004586128 | Skin | cSCC | negative regulation of proteolysis | 128/4864 | 351/18723 | 7.95e-06 | 1.09e-04 | 128 |
GO:00903054 | Skin | cSCC | nucleic acid phosphodiester bond hydrolysis | 97/4864 | 261/18723 | 4.08e-05 | 4.34e-04 | 97 |
GO:190179913 | Skin | cSCC | negative regulation of proteasomal protein catabolic process | 26/4864 | 49/18723 | 4.78e-05 | 4.96e-04 | 26 |
GO:007148211 | Skin | cSCC | cellular response to light stimulus | 50/4864 | 123/18723 | 2.60e-04 | 2.11e-03 | 50 |
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 |
N4BP1 | SNV | Missense_Mutation | rs773100602 | c.2605G>C | p.Glu869Gln | p.E869Q | O75113 | protein_coding | tolerated(0.08) | probably_damaging(0.987) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
N4BP1 | SNV | Missense_Mutation | | c.722G>A | p.Gly241Glu | p.G241E | O75113 | protein_coding | deleterious(0) | possibly_damaging(0.762) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
N4BP1 | SNV | Missense_Mutation | | c.1184N>C | p.Arg395Thr | p.R395T | O75113 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
N4BP1 | SNV | Missense_Mutation | | c.855N>C | p.Arg285Ser | p.R285S | O75113 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
N4BP1 | SNV | Missense_Mutation | novel | c.799N>G | p.Asn267Asp | p.N267D | O75113 | protein_coding | deleterious(0.02) | possibly_damaging(0.541) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
N4BP1 | SNV | Missense_Mutation | | c.2113G>A | p.Asp705Asn | p.D705N | O75113 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-C8-A12Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
N4BP1 | insertion | Frame_Shift_Ins | novel | c.2559_2560insTGTGG | p.Thr854CysfsTer6 | p.T854Cfs*6 | O75113 | protein_coding | | | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
N4BP1 | insertion | Frame_Shift_Ins | novel | c.2558_2559insTGCGTCCGTGATGCCTCCTA | p.Glu853AspfsTer12 | p.E853Dfs*12 | O75113 | protein_coding | | | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
N4BP1 | insertion | Nonsense_Mutation | novel | c.1735_1736insATGGAGGCACCTTTAGGCCAAATTTAATTTAATTTAA | p.Ser579TyrfsTer11 | p.S579Yfs*11 | O75113 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
N4BP1 | insertion | Frame_Shift_Ins | novel | c.797_798insGGTTCAGT | p.Ile266MetfsTer4 | p.I266Mfs*4 | O75113 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |