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/TBC1D8_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![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/Endometrium/TBC1D8_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/TBC1D8_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/TBC1D8_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/TBC1D8_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00430877 | Cervix | CC | regulation of GTPase activity | 79/2311 | 348/18723 | 4.21e-08 | 2.60e-06 | 79 |
GO:00435476 | Cervix | CC | positive regulation of GTPase activity | 53/2311 | 255/18723 | 8.72e-05 | 1.16e-03 | 53 |
GO:00430878 | Endometrium | AEH | regulation of GTPase activity | 66/2100 | 348/18723 | 1.26e-05 | 2.77e-04 | 66 |
GO:00435477 | Endometrium | AEH | positive regulation of GTPase activity | 48/2100 | 255/18723 | 2.18e-04 | 2.67e-03 | 48 |
GO:00906304 | Endometrium | AEH | activation of GTPase activity | 22/2100 | 115/18723 | 8.42e-03 | 4.60e-02 | 22 |
GO:004308712 | Endometrium | EEC | regulation of GTPase activity | 67/2168 | 348/18723 | 1.84e-05 | 3.43e-04 | 67 |
GO:004354712 | Endometrium | EEC | positive regulation of GTPase activity | 50/2168 | 255/18723 | 1.26e-04 | 1.66e-03 | 50 |
GO:009063012 | Endometrium | EEC | activation of GTPase activity | 23/2168 | 115/18723 | 6.04e-03 | 3.57e-02 | 23 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:00430875 | Liver | NAFLD | regulation of GTPase activity | 62/1882 | 348/18723 | 5.65e-06 | 2.03e-04 | 62 |
GO:00435474 | Liver | NAFLD | positive regulation of GTPase activity | 45/1882 | 255/18723 | 1.30e-04 | 2.47e-03 | 45 |
GO:00906301 | Liver | NAFLD | activation of GTPase activity | 22/1882 | 115/18723 | 2.28e-03 | 2.19e-02 | 22 |
GO:00430879 | Prostate | BPH | regulation of GTPase activity | 88/3107 | 348/18723 | 2.04e-05 | 2.49e-04 | 88 |
GO:00435478 | Prostate | BPH | positive regulation of GTPase activity | 61/3107 | 255/18723 | 1.58e-03 | 9.23e-03 | 61 |
GO:004308713 | Prostate | Tumor | regulation of GTPase activity | 88/3246 | 348/18723 | 1.04e-04 | 1.00e-03 | 88 |
GO:004354713 | Prostate | Tumor | positive regulation of GTPase activity | 60/3246 | 255/18723 | 6.87e-03 | 3.11e-02 | 60 |
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 |
TBC1D8 | SNV | Missense_Mutation | novel | c.3346N>C | p.Phe1116Leu | p.F1116L | | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AJ-A23O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D8 | SNV | Missense_Mutation | rs150157730 | c.2011N>A | p.Asp671Asn | p.D671N | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
TBC1D8 | SNV | Missense_Mutation | rs572578268 | c.2686N>A | p.Ala896Thr | p.A896T | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
TBC1D8 | SNV | Missense_Mutation | novel | c.1243N>A | p.Val415Met | p.V415M | | protein_coding | tolerated(0.38) | possibly_damaging(0.896) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
TBC1D8 | SNV | Missense_Mutation | | c.3131N>G | p.Glu1044Gly | p.E1044G | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D8 | SNV | Missense_Mutation | rs375999657 | c.803N>A | p.Arg268Gln | p.R268Q | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D8 | SNV | Missense_Mutation | novel | c.1427N>A | p.Gly476Asp | p.G476D | | protein_coding | tolerated(0.81) | benign(0.037) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D8 | SNV | Missense_Mutation | rs759335576 | c.2846N>A | p.Arg949Gln | p.R949Q | | protein_coding | tolerated(0.6) | benign(0.005) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
TBC1D8 | SNV | Missense_Mutation | novel | c.1870N>T | p.Ala624Ser | p.A624S | | protein_coding | tolerated(0.05) | possibly_damaging(0.72) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
TBC1D8 | SNV | Missense_Mutation | rs752493871 | c.2761N>A | p.Asp921Asn | p.D921N | | protein_coding | tolerated(0.06) | probably_damaging(0.947) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |