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/RETSAT_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/RETSAT_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/RETSAT_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/RETSAT_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/RETSAT_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0034308 | Colorectum | AD | primary alcohol metabolic process | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:00060661 | Colorectum | SER | alcohol metabolic process | 79/2897 | 353/18723 | 3.50e-04 | 5.50e-03 | 79 |
GO:00343081 | Colorectum | SER | primary alcohol metabolic process | 26/2897 | 102/18723 | 5.87e-03 | 4.29e-02 | 26 |
GO:00060662 | Colorectum | MSS | alcohol metabolic process | 92/3467 | 353/18723 | 2.57e-04 | 3.46e-03 | 92 |
GO:00060663 | Colorectum | FAP | alcohol metabolic process | 69/2622 | 353/18723 | 2.29e-03 | 1.85e-02 | 69 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:000672011 | Liver | HCC | isoprenoid metabolic process | 65/7958 | 116/18723 | 2.23e-03 | 1.11e-02 | 65 |
GO:003430812 | Liver | HCC | primary alcohol metabolic process | 55/7958 | 102/18723 | 1.30e-02 | 4.67e-02 | 55 |
GO:00060667 | Oral cavity | OSCC | alcohol metabolic process | 179/7305 | 353/18723 | 4.54e-06 | 5.21e-05 | 179 |
GO:00067203 | Oral cavity | OSCC | isoprenoid metabolic process | 59/7305 | 116/18723 | 6.18e-03 | 2.33e-02 | 59 |
GO:000606613 | Oral cavity | LP | alcohol metabolic process | 111/4623 | 353/18723 | 2.24e-03 | 1.62e-02 | 111 |
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 |
RETSAT | SNV | Missense_Mutation | novel | c.1795C>G | p.Leu599Val | p.L599V | Q6NUM9 | protein_coding | deleterious(0) | possibly_damaging(0.625) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RETSAT | SNV | Missense_Mutation | | c.1273T>A | p.Ser425Thr | p.S425T | Q6NUM9 | protein_coding | tolerated(0.05) | benign(0.184) | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RETSAT | SNV | Missense_Mutation | rs142596961 | c.1184N>A | p.Arg395Gln | p.R395Q | Q6NUM9 | protein_coding | tolerated(0.31) | benign(0.018) | TCGA-D8-A142-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamid | SD |
RETSAT | insertion | In_Frame_Ins | novel | c.1208_1209insATCAGCTCTGATCCCCAG | p.Leu403_Pro404insSerAlaLeuIleProArg | p.L403_P404insSALIPR | Q6NUM9 | protein_coding | | | TCGA-A8-A09E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
RETSAT | insertion | Frame_Shift_Ins | novel | c.1194_1195insCTCG | p.Glu399LeufsTer16 | p.E399Lfs*16 | Q6NUM9 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RETSAT | insertion | Frame_Shift_Ins | novel | c.1192_1193insGTAGTAATATC | p.Lys398SerfsTer67 | p.K398Sfs*67 | Q6NUM9 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RETSAT | SNV | Missense_Mutation | novel | c.1021N>A | p.Glu341Lys | p.E341K | Q6NUM9 | protein_coding | deleterious(0.01) | benign(0.071) | TCGA-C5-A8YQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
RETSAT | SNV | Missense_Mutation | rs752464514 | c.688N>T | p.Arg230Cys | p.R230C | Q6NUM9 | protein_coding | tolerated(0.18) | possibly_damaging(0.586) | TCGA-HM-A3JJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
RETSAT | SNV | Missense_Mutation | | c.1174N>G | p.Ile392Val | p.I392V | Q6NUM9 | protein_coding | tolerated(1) | benign(0.003) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
RETSAT | SNV | Missense_Mutation | | c.1627N>T | p.Arg543Cys | p.R543C | Q6NUM9 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |