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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
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 |
hsa0412015 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
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 |
hsa0412016 | Endometrium | AEH | Ubiquitin mediated proteolysis | 41/1197 | 142/8465 | 3.42e-06 | 4.27e-05 | 3.13e-05 | 41 |
hsa0412017 | Endometrium | AEH | Ubiquitin mediated proteolysis | 41/1197 | 142/8465 | 3.42e-06 | 4.27e-05 | 3.13e-05 | 41 |
hsa0412023 | Endometrium | EEC | Ubiquitin mediated proteolysis | 41/1237 | 142/8465 | 7.86e-06 | 9.58e-05 | 7.14e-05 | 41 |
hsa0412033 | Endometrium | EEC | Ubiquitin mediated proteolysis | 41/1237 | 142/8465 | 7.86e-06 | 9.58e-05 | 7.14e-05 | 41 |
hsa0412027 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
hsa0412036 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
hsa0412010 | Liver | NAFLD | Ubiquitin mediated proteolysis | 44/1043 | 142/8465 | 2.59e-09 | 1.70e-07 | 1.37e-07 | 44 |
hsa0412011 | Liver | NAFLD | Ubiquitin mediated proteolysis | 44/1043 | 142/8465 | 2.59e-09 | 1.70e-07 | 1.37e-07 | 44 |
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 |
HERC4 | SNV | Missense_Mutation | | c.944N>A | p.Arg315Gln | p.R315Q | Q5GLZ8 | protein_coding | tolerated(0.09) | possibly_damaging(0.716) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HERC4 | SNV | Missense_Mutation | novel | c.467G>C | p.Ser156Thr | p.S156T | Q5GLZ8 | protein_coding | deleterious(0) | possibly_damaging(0.646) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
HERC4 | SNV | Missense_Mutation | | c.2440N>T | p.Leu814Phe | p.L814F | Q5GLZ8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
HERC4 | SNV | Missense_Mutation | | c.1423C>T | p.His475Tyr | p.H475Y | Q5GLZ8 | protein_coding | tolerated(0.2) | benign(0.211) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
HERC4 | insertion | Nonsense_Mutation | novel | c.952_953insGATCATGTCATGCATTGTCTTATATC | p.Ser318Ter | p.S318* | Q5GLZ8 | protein_coding | | | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
HERC4 | deletion | Frame_Shift_Del | novel | c.2265delA | p.Glu756AsnfsTer7 | p.E756Nfs*7 | Q5GLZ8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HERC4 | SNV | Missense_Mutation | rs751824179 | c.2260C>T | p.Arg754Cys | p.R754C | Q5GLZ8 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HERC4 | SNV | Missense_Mutation | | c.1674N>T | p.Lys558Asn | p.K558N | Q5GLZ8 | protein_coding | deleterious(0.03) | benign(0.25) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HERC4 | SNV | Missense_Mutation | | c.647N>A | p.Arg216His | p.R216H | Q5GLZ8 | protein_coding | deleterious(0.01) | probably_damaging(0.969) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HERC4 | SNV | Missense_Mutation | | c.2362N>G | p.Thr788Ala | p.T788A | Q5GLZ8 | protein_coding | tolerated(0.1) | possibly_damaging(0.688) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |