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/HSD17B12_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/HSD17B12_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/HSD17B12_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/HSD17B12_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/HSD17B12_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/HSD17B12_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/HSD17B12_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/HSD17B12_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/HSD17B12_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:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
GO:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
GO:00723303 | Liver | NAFLD | monocarboxylic acid biosynthetic process | 46/1882 | 214/18723 | 5.06e-07 | 3.07e-05 | 46 |
GO:00108107 | Liver | NAFLD | regulation of cell-substrate adhesion | 47/1882 | 221/18723 | 5.30e-07 | 3.16e-05 | 47 |
GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
GO:00725217 | Liver | NAFLD | purine-containing compound metabolic process | 74/1882 | 416/18723 | 7.73e-07 | 4.27e-05 | 74 |
GO:00091507 | Liver | NAFLD | purine ribonucleotide metabolic process | 67/1882 | 368/18723 | 1.10e-06 | 5.44e-05 | 67 |
GO:00061637 | Liver | NAFLD | purine nucleotide metabolic process | 70/1882 | 396/18723 | 1.93e-06 | 8.23e-05 | 70 |
GO:00315896 | Liver | NAFLD | cell-substrate adhesion | 65/1882 | 363/18723 | 2.84e-06 | 1.18e-04 | 65 |
GO:00067904 | Liver | NAFLD | sulfur compound metabolic process | 58/1882 | 339/18723 | 3.79e-05 | 9.38e-04 | 58 |
GO:00338653 | Liver | NAFLD | nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00338753 | Liver | NAFLD | ribonucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00340323 | Liver | NAFLD | purine nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00066943 | Liver | NAFLD | steroid biosynthetic process | 34/1882 | 173/18723 | 1.01e-04 | 2.02e-03 | 34 |
GO:0006637 | Liver | NAFLD | acyl-CoA metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:0035383 | Liver | NAFLD | thioester metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:00108117 | Liver | NAFLD | positive regulation of cell-substrate adhesion | 25/1882 | 123/18723 | 4.73e-04 | 6.74e-03 | 25 |
GO:0044272 | Liver | NAFLD | sulfur compound biosynthetic process | 28/1882 | 148/18723 | 7.52e-04 | 9.52e-03 | 28 |
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 |
HSD17B12 | insertion | In_Frame_Ins | novel | c.127_128insGAAGACAAATTAAAAGATATAGTCTCCTTC | p.Ala43delinsGlyArgGlnIleLysArgTyrSerLeuLeuPro | p.A43delinsGRQIKRYSLLP | Q53GQ0 | protein_coding | | | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.271T>G | p.Ser91Ala | p.S91A | Q53GQ0 | protein_coding | tolerated(1) | benign(0.005) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.505A>G | p.Thr169Ala | p.T169A | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.534) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | rs764576855 | c.22N>A | p.Ala8Thr | p.A8T | Q53GQ0 | protein_coding | tolerated(0.16) | benign(0.009) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
HSD17B12 | SNV | Missense_Mutation | rs768344325 | c.901N>G | p.Thr301Ala | p.T301A | Q53GQ0 | protein_coding | tolerated(0.46) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.646N>T | p.Leu216Phe | p.L216F | Q53GQ0 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.614N>G | p.Thr205Ser | p.T205S | Q53GQ0 | protein_coding | tolerated(0.52) | benign(0.186) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
HSD17B12 | SNV | Missense_Mutation | rs764792567 | c.755N>T | p.Pro252Leu | p.P252L | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HSD17B12 | SNV | Missense_Mutation | rs764792567 | c.755N>T | p.Pro252Leu | p.P252L | Q53GQ0 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
HSD17B12 | SNV | Missense_Mutation | novel | c.475N>C | p.Asn159His | p.N159H | Q53GQ0 | protein_coding | deleterious(0.03) | benign(0.114) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |