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:001081112 | Liver | Cirrhotic | positive regulation of cell-substrate adhesion | 53/4634 | 123/18723 | 6.21e-06 | 9.88e-05 | 53 |
GO:00442721 | Liver | Cirrhotic | sulfur compound biosynthetic process | 58/4634 | 148/18723 | 6.93e-05 | 7.83e-04 | 58 |
GO:00463905 | Liver | Cirrhotic | ribose phosphate biosynthetic process | 71/4634 | 190/18723 | 7.09e-05 | 7.98e-04 | 71 |
GO:00092605 | Liver | Cirrhotic | ribonucleotide biosynthetic process | 68/4634 | 182/18723 | 1.00e-04 | 1.05e-03 | 68 |
GO:00091654 | Liver | Cirrhotic | nucleotide biosynthetic process | 89/4634 | 254/18723 | 1.45e-04 | 1.40e-03 | 89 |
GO:19012934 | Liver | Cirrhotic | nucleoside phosphate biosynthetic process | 89/4634 | 256/18723 | 1.97e-04 | 1.82e-03 | 89 |
GO:00457857 | Liver | Cirrhotic | positive regulation of cell adhesion | 141/4634 | 437/18723 | 2.05e-04 | 1.89e-03 | 141 |
GO:00338651 | Liver | Cirrhotic | nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:00338751 | Liver | Cirrhotic | ribonucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:00340321 | Liver | Cirrhotic | purine nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:00091526 | Liver | Cirrhotic | purine ribonucleotide biosynthetic process | 62/4634 | 169/18723 | 3.52e-04 | 3.00e-03 | 62 |
GO:00066371 | Liver | Cirrhotic | acyl-CoA metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
GO:00353831 | Liver | Cirrhotic | thioester metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
GO:00725225 | Liver | Cirrhotic | purine-containing compound biosynthetic process | 69/4634 | 200/18723 | 1.22e-03 | 8.24e-03 | 69 |
GO:00082101 | Liver | Cirrhotic | estrogen metabolic process | 18/4634 | 38/18723 | 2.05e-03 | 1.27e-02 | 18 |
GO:004244511 | Liver | Cirrhotic | hormone metabolic process | 73/4634 | 218/18723 | 2.22e-03 | 1.36e-02 | 73 |
GO:00061645 | Liver | Cirrhotic | purine nucleotide biosynthetic process | 65/4634 | 191/18723 | 2.42e-03 | 1.46e-02 | 65 |
GO:0033866 | Liver | Cirrhotic | nucleoside bisphosphate biosynthetic process | 25/4634 | 60/18723 | 2.92e-03 | 1.67e-02 | 25 |
GO:0034030 | Liver | Cirrhotic | ribonucleoside bisphosphate biosynthetic process | 25/4634 | 60/18723 | 2.92e-03 | 1.67e-02 | 25 |
GO:0034033 | Liver | Cirrhotic | purine nucleoside bisphosphate biosynthetic process | 25/4634 | 60/18723 | 2.92e-03 | 1.67e-02 | 25 |
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 |