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 | SNV | Missense_Mutation | novel | c.2320N>C | p.Tyr774His | p.Y774H | Q8TDJ6 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
DMXL2 | SNV | Missense_Mutation | novel | c.947N>G | p.Lys316Arg | p.K316R | Q8TDJ6 | protein_coding | tolerated(1) | benign(0.227) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
DMXL2 | SNV | Missense_Mutation | novel | c.5663N>T | p.Thr1888Ile | p.T1888I | Q8TDJ6 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | Frame_Shift_Ins | rs755724261 | c.326_327insT | p.Leu109PhefsTer15 | p.L109Ffs*15 | Q8TDJ6 | protein_coding | | | TCGA-A5-A0GA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | taxol | PD |
DMXL2 | deletion | Frame_Shift_Del | rs752363479 | c.326delN | p.Leu109Ter | p.L109* | Q8TDJ6 | protein_coding | | | TCGA-A5-A0GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.1762_1763insTACTCCTCCAGTGTATGACAAAG | p.Ser588IlefsTer24 | p.S588Ifs*24 | Q8TDJ6 | protein_coding | | | TCGA-AP-A0LD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.7477_7478insT | p.Ser2493PhefsTer15 | p.S2493Ffs*15 | Q8TDJ6 | protein_coding | | | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DMXL2 | insertion | Nonsense_Mutation | novel | c.5732_5733insTCATCACTA | p.Val1911_Thr1912insHisHisTer | p.V1911_T1912insHH* | Q8TDJ6 | protein_coding | | | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DMXL2 | insertion | Frame_Shift_Ins | novel | c.4485_4486insCAACTTT | p.Ile1496GlnfsTer46 | p.I1496Qfs*46 | Q8TDJ6 | protein_coding | | | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DMXL2 | deletion | Frame_Shift_Del | | c.8759delN | p.Gly2920ValfsTer48 | p.G2920Vfs*48 | Q8TDJ6 | protein_coding | | | TCGA-AX-A2HG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |