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/HELZ_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/HELZ_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/HELZ_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/HELZ_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/HELZ_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/HELZ_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/HELZ_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/HELZ_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/HELZ_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:000018415 | Thyroid | PTC | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 26/5968 | 37/18723 | 1.85e-06 | 2.55e-05 | 26 |
GO:00905015 | Thyroid | PTC | RNA phosphodiester bond hydrolysis | 76/5968 | 152/18723 | 2.40e-06 | 3.17e-05 | 76 |
GO:00903055 | Thyroid | PTC | nucleic acid phosphodiester bond hydrolysis | 105/5968 | 261/18723 | 2.53e-03 | 1.31e-02 | 105 |
GO:000640127 | Thyroid | ATC | RNA catabolic process | 165/6293 | 278/18723 | 8.45e-19 | 1.14e-16 | 165 |
GO:000640227 | Thyroid | ATC | mRNA catabolic process | 140/6293 | 232/18723 | 5.08e-17 | 4.65e-15 | 140 |
GO:003465525 | Thyroid | ATC | nucleobase-containing compound catabolic process | 217/6293 | 407/18723 | 1.20e-16 | 1.04e-14 | 217 |
GO:000095624 | Thyroid | ATC | nuclear-transcribed mRNA catabolic process | 78/6293 | 112/18723 | 6.44e-15 | 4.07e-13 | 78 |
GO:004670024 | Thyroid | ATC | heterocycle catabolic process | 228/6293 | 445/18723 | 7.26e-15 | 4.50e-13 | 228 |
GO:004427025 | Thyroid | ATC | cellular nitrogen compound catabolic process | 229/6293 | 451/18723 | 2.25e-14 | 1.27e-12 | 229 |
GO:001943924 | Thyroid | ATC | aromatic compound catabolic process | 232/6293 | 467/18723 | 3.05e-13 | 1.44e-11 | 232 |
GO:190136124 | Thyroid | ATC | organic cyclic compound catabolic process | 238/6293 | 495/18723 | 1.12e-11 | 4.12e-10 | 238 |
GO:000018422 | Thyroid | ATC | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 26/6293 | 37/18723 | 5.64e-06 | 6.00e-05 | 26 |
GO:009050112 | Thyroid | ATC | RNA phosphodiester bond hydrolysis | 76/6293 | 152/18723 | 2.07e-05 | 1.86e-04 | 76 |
GO:009030511 | Thyroid | ATC | nucleic acid phosphodiester bond hydrolysis | 107/6293 | 261/18723 | 7.21e-03 | 2.84e-02 | 107 |
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 |
HELZ | SNV | Missense_Mutation | | c.884N>A | p.Arg295His | p.R295H | | protein_coding | tolerated(0.4) | probably_damaging(0.996) | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
HELZ | SNV | Missense_Mutation | novel | c.3770A>C | p.His1257Pro | p.H1257P | | protein_coding | tolerated_low_confidence(0.7) | benign(0.02) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
HELZ | SNV | Missense_Mutation | novel | c.1900T>G | p.Trp634Gly | p.W634G | | protein_coding | deleterious(0.04) | probably_damaging(0.994) | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HELZ | SNV | Missense_Mutation | novel | c.5239N>A | p.Glu1747Lys | p.E1747K | | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.78) | TCGA-AC-A3W7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
HELZ | SNV | Missense_Mutation | novel | c.1619C>G | p.Pro540Arg | p.P540R | | protein_coding | tolerated(0.09) | benign(0.062) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
HELZ | SNV | Missense_Mutation | | c.3677N>A | p.Arg1226Gln | p.R1226Q | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.99) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HELZ | SNV | Missense_Mutation | | c.506N>A | p.Arg169His | p.R169H | | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HELZ | SNV | Missense_Mutation | novel | c.4843N>C | p.Ser1615Arg | p.S1615R | | protein_coding | tolerated_low_confidence(0.14) | possibly_damaging(0.49) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
HELZ | SNV | Missense_Mutation | | c.5453C>A | p.Pro1818Gln | p.P1818Q | | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.875) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HELZ | SNV | Missense_Mutation | rs777619260 | c.4466N>T | p.Ser1489Leu | p.S1489L | | protein_coding | tolerated_low_confidence(0.06) | benign(0.015) | TCGA-B6-A0I8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |