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/ITPK1_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/ITPK1_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/ITPK1_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/ITPK1_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/ITPK1_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:0042060 | Colorectum | AD | wound healing | 128/3918 | 422/18723 | 2.73e-06 | 7.89e-05 | 128 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0044262 | Colorectum | AD | cellular carbohydrate metabolic process | 87/3918 | 283/18723 | 6.00e-05 | 1.01e-03 | 87 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0021915 | Colorectum | AD | neural tube development | 45/3918 | 152/18723 | 7.05e-03 | 4.31e-02 | 45 |
GO:00420601 | Colorectum | SER | wound healing | 97/2897 | 422/18723 | 2.69e-05 | 7.30e-04 | 97 |
GO:00060661 | Colorectum | SER | alcohol metabolic process | 79/2897 | 353/18723 | 3.50e-04 | 5.50e-03 | 79 |
GO:00508781 | Colorectum | SER | regulation of body fluid levels | 81/2897 | 379/18723 | 1.28e-03 | 1.43e-02 | 81 |
GO:00420604 | Colorectum | FAP | wound healing | 99/2622 | 422/18723 | 9.50e-08 | 6.33e-06 | 99 |
GO:00442621 | Colorectum | FAP | cellular carbohydrate metabolic process | 66/2622 | 283/18723 | 1.53e-05 | 4.01e-04 | 66 |
GO:00508784 | Colorectum | FAP | regulation of body fluid levels | 79/2622 | 379/18723 | 1.52e-04 | 2.35e-03 | 79 |
GO:00219152 | Colorectum | FAP | neural tube development | 36/2622 | 152/18723 | 9.05e-04 | 9.17e-03 | 36 |
GO:00060663 | Colorectum | FAP | alcohol metabolic process | 69/2622 | 353/18723 | 2.29e-03 | 1.85e-02 | 69 |
GO:00420605 | Colorectum | CRC | wound healing | 80/2078 | 422/18723 | 1.06e-06 | 6.54e-05 | 80 |
GO:00508785 | Colorectum | CRC | regulation of body fluid levels | 65/2078 | 379/18723 | 2.38e-04 | 3.96e-03 | 65 |
GO:00442622 | Colorectum | CRC | cellular carbohydrate metabolic process | 49/2078 | 283/18723 | 1.06e-03 | 1.24e-02 | 49 |
GO:00219153 | Colorectum | CRC | neural tube development | 30/2078 | 152/18723 | 1.21e-03 | 1.38e-02 | 30 |
GO:00060664 | Colorectum | CRC | alcohol metabolic process | 57/2078 | 353/18723 | 2.37e-03 | 2.27e-02 | 57 |
GO:0019751 | Colorectum | CRC | polyol metabolic process | 22/2078 | 114/18723 | 6.73e-03 | 4.77e-02 | 22 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
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 |
ITPK1 | SNV | Missense_Mutation | novel | c.311N>C | p.Leu104Pro | p.L104P | Q13572 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A2G6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ITPK1 | SNV | Missense_Mutation | rs777045448 | c.316N>T | p.Arg106Cys | p.R106C | Q13572 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ITPK1 | SNV | Missense_Mutation | novel | c.352N>A | p.Ala118Thr | p.A118T | Q13572 | protein_coding | tolerated(0.6) | benign(0.006) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITPK1 | SNV | Missense_Mutation | rs778995594 | c.1037N>T | p.Ala346Val | p.A346V | Q13572 | protein_coding | tolerated_low_confidence(0.24) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ITPK1 | SNV | Missense_Mutation | rs368483115 | c.586N>A | p.Val196Ile | p.V196I | Q13572 | protein_coding | tolerated(0.24) | benign(0.065) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ITPK1 | SNV | Missense_Mutation | novel | c.503N>C | p.Glu168Ala | p.E168A | Q13572 | protein_coding | deleterious(0.01) | possibly_damaging(0.676) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ITPK1 | SNV | Missense_Mutation | novel | c.246N>T | p.Gln82His | p.Q82H | Q13572 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ITPK1 | SNV | Missense_Mutation | | c.934N>A | p.Leu312Ile | p.L312I | Q13572 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITPK1 | SNV | Missense_Mutation | novel | c.628G>T | p.Val210Phe | p.V210F | Q13572 | protein_coding | deleterious(0.02) | possibly_damaging(0.729) | TCGA-DD-AACQ-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
ITPK1 | SNV | Missense_Mutation | | c.888N>G | p.Ile296Met | p.I296M | Q13572 | protein_coding | deleterious(0.03) | possibly_damaging(0.655) | TCGA-55-A48Y-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | CR |