Tissue | Expression Dynamics | Abbreviation |
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/HELZ2_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/HELZ2_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/HELZ2_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/HELZ2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/HELZ2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/HELZ2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/HELZ2_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:000018413 | Oral cavity | LP | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19/4623 | 37/18723 | 4.25e-04 | 4.08e-03 | 19 |
GO:0006401111 | Skin | cSCC | RNA catabolic process | 133/4864 | 278/18723 | 2.71e-15 | 2.23e-13 | 133 |
GO:0006402111 | Skin | cSCC | mRNA catabolic process | 115/4864 | 232/18723 | 9.01e-15 | 6.57e-13 | 115 |
GO:0034655111 | Skin | cSCC | nucleobase-containing compound catabolic process | 172/4864 | 407/18723 | 4.11e-13 | 2.43e-11 | 172 |
GO:0046700110 | Skin | cSCC | heterocycle catabolic process | 178/4864 | 445/18723 | 4.45e-11 | 2.13e-09 | 178 |
GO:0044270110 | Skin | cSCC | cellular nitrogen compound catabolic process | 179/4864 | 451/18723 | 8.34e-11 | 3.79e-09 | 179 |
GO:0019439110 | Skin | cSCC | aromatic compound catabolic process | 183/4864 | 467/18723 | 1.76e-10 | 7.68e-09 | 183 |
GO:0000956110 | Skin | cSCC | nuclear-transcribed mRNA catabolic process | 59/4864 | 112/18723 | 1.46e-09 | 5.60e-08 | 59 |
GO:1901361110 | Skin | cSCC | organic cyclic compound catabolic process | 188/4864 | 495/18723 | 1.92e-09 | 7.01e-08 | 188 |
GO:00905014 | Skin | cSCC | RNA phosphodiester bond hydrolysis | 71/4864 | 152/18723 | 2.72e-08 | 7.41e-07 | 71 |
GO:00903054 | Skin | cSCC | nucleic acid phosphodiester bond hydrolysis | 97/4864 | 261/18723 | 4.08e-05 | 4.34e-04 | 97 |
GO:00001847 | Skin | cSCC | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 19/4864 | 37/18723 | 8.42e-04 | 5.81e-03 | 19 |
GO:0006401112 | Thyroid | PTC | RNA catabolic process | 163/5968 | 278/18723 | 2.13e-20 | 3.27e-18 | 163 |
GO:0006402112 | Thyroid | PTC | mRNA catabolic process | 139/5968 | 232/18723 | 9.59e-19 | 1.12e-16 | 139 |
GO:0034655112 | Thyroid | PTC | nucleobase-containing compound catabolic process | 211/5968 | 407/18723 | 2.72e-17 | 2.52e-15 | 211 |
GO:0000956111 | Thyroid | PTC | nuclear-transcribed mRNA catabolic process | 78/5968 | 112/18723 | 2.37e-16 | 1.94e-14 | 78 |
GO:0046700111 | Thyroid | PTC | heterocycle catabolic process | 221/5968 | 445/18723 | 2.43e-15 | 1.72e-13 | 221 |
GO:0044270111 | Thyroid | PTC | cellular nitrogen compound catabolic process | 223/5968 | 451/18723 | 3.34e-15 | 2.31e-13 | 223 |
GO:0019439111 | Thyroid | PTC | aromatic compound catabolic process | 225/5968 | 467/18723 | 8.51e-14 | 4.71e-12 | 225 |
GO:1901361111 | Thyroid | PTC | organic cyclic compound catabolic process | 231/5968 | 495/18723 | 2.55e-12 | 1.12e-10 | 231 |
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 |
HELZ2 | SNV | Missense_Mutation | novel | c.7378N>A | p.Ala2460Thr | p.A2460T | Q9BYK8 | protein_coding | tolerated(0.39) | benign(0.022) | TCGA-A2-A3XY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
HELZ2 | SNV | Missense_Mutation | | c.6786G>C | p.Arg2262Ser | p.R2262S | Q9BYK8 | protein_coding | tolerated(0.08) | benign(0.015) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HELZ2 | SNV | Missense_Mutation | rs369045635 | c.1903C>T | p.Arg635Trp | p.R635W | Q9BYK8 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HELZ2 | SNV | Missense_Mutation | | c.4881N>A | p.Met1627Ile | p.M1627I | Q9BYK8 | protein_coding | tolerated(1) | benign(0.005) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HELZ2 | SNV | Missense_Mutation | | c.568G>C | p.Glu190Gln | p.E190Q | Q9BYK8 | protein_coding | tolerated(0.44) | benign(0.003) | TCGA-B6-A0RS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HELZ2 | SNV | Missense_Mutation | rs151068704 | c.7156N>T | p.Leu2386Phe | p.L2386F | Q9BYK8 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
HELZ2 | SNV | Missense_Mutation | novel | c.3118N>T | p.Ala1040Ser | p.A1040S | Q9BYK8 | protein_coding | tolerated(0.73) | benign(0.239) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
HELZ2 | SNV | Missense_Mutation | novel | c.3116N>T | p.Cys1039Phe | p.C1039F | Q9BYK8 | protein_coding | tolerated(0.18) | benign(0) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
HELZ2 | deletion | Frame_Shift_Del | | c.7322delN | p.Lys2441ArgfsTer4 | p.K2441Rfs*4 | Q9BYK8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HELZ2 | SNV | Missense_Mutation | rs771795577 | c.4556N>A | p.Arg1519His | p.R1519H | Q9BYK8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |