Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Cervix/HERC1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/HERC1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/HERC1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/HERC1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/HERC1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/HERC1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/HERC1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/HERC1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/HERC1_pca_on_diff_genes.png) | 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:003133010 | Cervix | CC | negative regulation of cellular catabolic process | 63/2311 | 262/18723 | 1.10e-07 | 5.68e-06 | 63 |
GO:000989510 | Cervix | CC | negative regulation of catabolic process | 69/2311 | 320/18723 | 2.15e-06 | 6.55e-05 | 69 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
GO:0009895 | Colorectum | AD | negative regulation of catabolic process | 124/3918 | 320/18723 | 1.66e-13 | 3.35e-11 | 124 |
GO:0031330 | Colorectum | AD | negative regulation of cellular catabolic process | 104/3918 | 262/18723 | 2.66e-12 | 3.96e-10 | 104 |
GO:0010506 | Colorectum | AD | regulation of autophagy | 111/3918 | 317/18723 | 3.57e-09 | 2.35e-07 | 111 |
GO:0010507 | Colorectum | AD | negative regulation of autophagy | 31/3918 | 85/18723 | 6.91e-04 | 7.05e-03 | 31 |
GO:00313302 | Colorectum | MSS | negative regulation of cellular catabolic process | 96/3467 | 262/18723 | 2.67e-12 | 4.63e-10 | 96 |
GO:00098952 | Colorectum | MSS | negative regulation of catabolic process | 110/3467 | 320/18723 | 7.88e-12 | 1.20e-09 | 110 |
GO:00105062 | Colorectum | MSS | regulation of autophagy | 95/3467 | 317/18723 | 4.36e-07 | 1.71e-05 | 95 |
GO:00105071 | Colorectum | MSS | negative regulation of autophagy | 26/3467 | 85/18723 | 4.84e-03 | 3.38e-02 | 26 |
GO:00098954 | Colorectum | FAP | negative regulation of catabolic process | 91/2622 | 320/18723 | 9.66e-12 | 4.96e-09 | 91 |
GO:00313304 | Colorectum | FAP | negative regulation of cellular catabolic process | 77/2622 | 262/18723 | 6.79e-11 | 2.31e-08 | 77 |
GO:00105063 | Colorectum | FAP | regulation of autophagy | 80/2622 | 317/18723 | 6.43e-08 | 4.54e-06 | 80 |
GO:00105072 | Colorectum | FAP | negative regulation of autophagy | 24/2622 | 85/18723 | 4.59e-04 | 5.39e-03 | 24 |
GO:00098955 | Colorectum | CRC | negative regulation of catabolic process | 75/2078 | 320/18723 | 2.02e-10 | 9.31e-08 | 75 |
GO:00313305 | Colorectum | CRC | negative regulation of cellular catabolic process | 61/2078 | 262/18723 | 1.27e-08 | 2.54e-06 | 61 |
GO:00105064 | Colorectum | CRC | regulation of autophagy | 62/2078 | 317/18723 | 6.04e-06 | 2.35e-04 | 62 |
GO:00105073 | Colorectum | CRC | negative regulation of autophagy | 18/2078 | 85/18723 | 5.04e-03 | 3.87e-02 | 18 |
GO:0021953 | Colorectum | CRC | central nervous system neuron differentiation | 29/2078 | 162/18723 | 6.36e-03 | 4.62e-02 | 29 |
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 |
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 |
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 |
hsa0412041 | Liver | HCC | Ubiquitin mediated proteolysis | 110/4020 | 142/8465 | 1.67e-13 | 3.74e-12 | 2.08e-12 | 110 |
hsa0412051 | Liver | HCC | Ubiquitin mediated proteolysis | 110/4020 | 142/8465 | 1.67e-13 | 3.74e-12 | 2.08e-12 | 110 |
hsa0412012 | Lung | IAC | Ubiquitin mediated proteolysis | 40/1053 | 142/8465 | 3.24e-07 | 1.76e-05 | 1.17e-05 | 40 |
hsa0412013 | Lung | IAC | Ubiquitin mediated proteolysis | 40/1053 | 142/8465 | 3.24e-07 | 1.76e-05 | 1.17e-05 | 40 |
hsa0412022 | Lung | AIS | Ubiquitin mediated proteolysis | 41/961 | 142/8465 | 8.01e-09 | 4.33e-07 | 2.77e-07 | 41 |
hsa0412032 | Lung | AIS | Ubiquitin mediated proteolysis | 41/961 | 142/8465 | 8.01e-09 | 4.33e-07 | 2.77e-07 | 41 |
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 |
HERC1 | SNV | Missense_Mutation | novel | c.3974N>T | p.Arg1325Ile | p.R1325I | Q15751 | protein_coding | deleterious(0.02) | benign(0.296) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
HERC1 | SNV | Missense_Mutation | novel | c.1119N>T | p.Glu373Asp | p.E373D | Q15751 | protein_coding | tolerated(0.58) | benign(0.376) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
HERC1 | SNV | Missense_Mutation | novel | c.1118N>C | p.Glu373Ala | p.E373A | Q15751 | protein_coding | tolerated(0.1) | possibly_damaging(0.908) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
HERC1 | SNV | Missense_Mutation | | c.989N>A | p.Cys330Tyr | p.C330Y | Q15751 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AX-A06H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
HERC1 | SNV | Missense_Mutation | | c.11638C>A | p.His3880Asn | p.H3880N | Q15751 | protein_coding | deleterious(0.03) | probably_damaging(0.968) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HERC1 | SNV | Missense_Mutation | rs781546007 | c.785G>A | p.Arg262Gln | p.R262Q | Q15751 | protein_coding | tolerated(0.08) | possibly_damaging(0.493) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HERC1 | SNV | Missense_Mutation | rs201312041 | c.9682N>A | p.Ala3228Thr | p.A3228T | Q15751 | protein_coding | tolerated(0.28) | probably_damaging(0.984) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HERC1 | SNV | Missense_Mutation | novel | c.6682N>A | p.Arg2228Ser | p.R2228S | Q15751 | protein_coding | tolerated(0.73) | benign(0.046) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
HERC1 | SNV | Missense_Mutation | novel | c.14560G>A | p.Ala4854Thr | p.A4854T | Q15751 | protein_coding | deleterious(0.03) | benign(0.013) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
HERC1 | SNV | Missense_Mutation | novel | c.12458G>A | p.Gly4153Asp | p.G4153D | Q15751 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |