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/DMXL2_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/DMXL2_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/DMXL2_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/DMXL2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030004 | Colorectum | AD | cellular monovalent inorganic cation homeostasis | 36/3918 | 103/18723 | 6.80e-04 | 6.95e-03 | 36 |
GO:0030641 | Colorectum | AD | regulation of cellular pH | 29/3918 | 81/18723 | 1.42e-03 | 1.22e-02 | 29 |
GO:0051453 | Colorectum | AD | regulation of intracellular pH | 26/3918 | 75/18723 | 4.04e-03 | 2.82e-02 | 26 |
GO:0006885 | Colorectum | AD | regulation of pH | 30/3918 | 91/18723 | 4.95e-03 | 3.32e-02 | 30 |
GO:0055067 | Colorectum | AD | monovalent inorganic cation homeostasis | 45/3918 | 151/18723 | 6.19e-03 | 3.88e-02 | 45 |
GO:00300041 | Colorectum | SER | cellular monovalent inorganic cation homeostasis | 31/2897 | 103/18723 | 1.31e-04 | 2.66e-03 | 31 |
GO:00306411 | Colorectum | SER | regulation of cellular pH | 24/2897 | 81/18723 | 9.20e-04 | 1.11e-02 | 24 |
GO:00550671 | Colorectum | SER | monovalent inorganic cation homeostasis | 37/2897 | 151/18723 | 2.48e-03 | 2.33e-02 | 37 |
GO:00514531 | Colorectum | SER | regulation of intracellular pH | 21/2897 | 75/18723 | 3.97e-03 | 3.26e-02 | 21 |
GO:00068851 | Colorectum | SER | regulation of pH | 24/2897 | 91/18723 | 5.03e-03 | 3.88e-02 | 24 |
GO:00300042 | Colorectum | MSS | cellular monovalent inorganic cation homeostasis | 31/3467 | 103/18723 | 2.94e-03 | 2.27e-02 | 31 |
GO:00306412 | Colorectum | MSS | regulation of cellular pH | 25/3467 | 81/18723 | 4.97e-03 | 3.46e-02 | 25 |
GO:00300043 | Colorectum | FAP | cellular monovalent inorganic cation homeostasis | 28/2622 | 103/18723 | 3.23e-04 | 4.15e-03 | 28 |
GO:00514532 | Colorectum | FAP | regulation of intracellular pH | 22/2622 | 75/18723 | 4.38e-04 | 5.21e-03 | 22 |
GO:00306413 | Colorectum | FAP | regulation of cellular pH | 22/2622 | 81/18723 | 1.37e-03 | 1.24e-02 | 22 |
GO:00550672 | Colorectum | FAP | monovalent inorganic cation homeostasis | 35/2622 | 151/18723 | 1.58e-03 | 1.40e-02 | 35 |
GO:00068852 | Colorectum | FAP | regulation of pH | 23/2622 | 91/18723 | 3.00e-03 | 2.27e-02 | 23 |
GO:00514533 | Colorectum | CRC | regulation of intracellular pH | 17/2078 | 75/18723 | 3.04e-03 | 2.71e-02 | 17 |
GO:00300044 | Colorectum | CRC | cellular monovalent inorganic cation homeostasis | 21/2078 | 103/18723 | 4.15e-03 | 3.40e-02 | 21 |
GO:00306414 | Colorectum | CRC | regulation of cellular pH | 17/2078 | 81/18723 | 6.93e-03 | 4.85e-02 | 17 |
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 |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.577_578insCTTTCCT | p.Leu193ProfsTer24 | p.L193Pfs*24 | Q8TDJ6 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
DMXL2 | insertion | In_Frame_Ins | novel | c.576_577insTATCCTTTC | p.Cys192_Leu193insTyrProPhe | p.C192_L193insYPF | Q8TDJ6 | protein_coding | | | TCGA-B5-A11V-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | In_Frame_Ins | novel | c.2082_2083insGAGAAGAAAAAGAAA | p.Asp694_Pro695insGluLysLysLysLys | p.D694_P695insEKKKK | Q8TDJ6 | protein_coding | | | TCGA-B5-A11Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | In_Frame_Ins | novel | c.2081_2082insATC | p.Asp694delinsGluSer | p.D694delinsES | Q8TDJ6 | protein_coding | | | TCGA-B5-A11Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | In_Frame_Ins | novel | c.1717_1718insTTA | p.Asp573delinsValAsn | p.D573delinsVN | Q8TDJ6 | protein_coding | | | TCGA-BG-A0MS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.5993_5994insTTTTAAATGGAAGACAAACACAAAAAATTTTAATT | p.Met1998IlefsTer13 | p.M1998Ifs*13 | Q8TDJ6 | protein_coding | | | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.651_652insCTTTGTGGGCT | p.Arg218LeufsTer22 | p.R218Lfs*22 | Q8TDJ6 | protein_coding | | | TCGA-D1-A102-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | deletion | Frame_Shift_Del | rs752363479 | c.326delN | p.Leu109Ter | p.L109* | Q8TDJ6 | protein_coding | | | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
DMXL2 | deletion | Frame_Shift_Del | rs752363479 | c.326delN | p.Leu109Ter | p.L109* | Q8TDJ6 | protein_coding | | | TCGA-EO-A22S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | SNV | Missense_Mutation | | c.7784N>G | p.Leu2595Arg | p.L2595R | Q8TDJ6 | protein_coding | deleterious(0) | possibly_damaging(0.724) | TCGA-BW-A5NQ-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |