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/CASK_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/CASK_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/CASK_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/CASK_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/CASK_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/CASK_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/CASK_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/CASK_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/CASK_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![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/Skin/CASK_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00990032 | Colorectum | FAP | vesicle-mediated transport in synapse | 51/2622 | 200/18723 | 1.09e-05 | 3.08e-04 | 51 |
GO:00995041 | Colorectum | FAP | synaptic vesicle cycle | 45/2622 | 181/18723 | 6.73e-05 | 1.28e-03 | 45 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00610411 | Colorectum | FAP | regulation of wound healing | 35/2622 | 134/18723 | 1.48e-04 | 2.29e-03 | 35 |
GO:19030341 | Colorectum | FAP | regulation of response to wounding | 41/2622 | 167/18723 | 1.86e-04 | 2.74e-03 | 41 |
GO:0010959 | Colorectum | FAP | regulation of metal ion transport | 83/2622 | 406/18723 | 2.06e-04 | 2.96e-03 | 83 |
GO:0043270 | Colorectum | FAP | positive regulation of ion transport | 58/2622 | 275/18723 | 7.98e-04 | 8.36e-03 | 58 |
GO:00506732 | Colorectum | FAP | epithelial cell proliferation | 84/2622 | 437/18723 | 1.39e-03 | 1.25e-02 | 84 |
GO:00071621 | Colorectum | FAP | negative regulation of cell adhesion | 61/2622 | 303/18723 | 1.96e-03 | 1.65e-02 | 61 |
GO:00108372 | Colorectum | FAP | regulation of keratinocyte proliferation | 12/2622 | 35/18723 | 2.02e-03 | 1.68e-02 | 12 |
GO:00436162 | Colorectum | FAP | keratinocyte proliferation | 14/2622 | 46/18723 | 3.17e-03 | 2.37e-02 | 14 |
GO:00506781 | Colorectum | FAP | regulation of epithelial cell proliferation | 71/2622 | 381/18723 | 6.67e-03 | 4.12e-02 | 71 |
GO:00171572 | Colorectum | FAP | regulation of exocytosis | 41/2622 | 202/18723 | 8.51e-03 | 4.95e-02 | 41 |
GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:0009259111 | Esophagus | ESCC | ribonucleotide metabolic process | 224/8552 | 385/18723 | 4.41e-07 | 6.00e-06 | 224 |
GO:004206027 | Esophagus | ESCC | wound healing | 243/8552 | 422/18723 | 4.62e-07 | 6.25e-06 | 243 |
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 |
CASK | SNV | Missense_Mutation | | c.2668N>G | p.Ile890Val | p.I890V | O14936 | protein_coding | tolerated(1) | benign(0) | TCGA-A1-A0SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CASK | SNV | Missense_Mutation | | c.1870G>C | p.Asp624His | p.D624H | O14936 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
CASK | SNV | Missense_Mutation | | c.1727N>T | p.Ser576Leu | p.S576L | O14936 | protein_coding | tolerated(0.17) | benign(0) | TCGA-A2-A0YT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD |
CASK | SNV | Missense_Mutation | novel | c.527N>G | p.Ala176Gly | p.A176G | O14936 | protein_coding | tolerated(0.25) | benign(0.017) | TCGA-A2-A4S1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CASK | SNV | Missense_Mutation | | c.847G>A | p.Ala283Thr | p.A283T | O14936 | protein_coding | deleterious(0.02) | benign(0.098) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CASK | SNV | Missense_Mutation | novel | c.1521G>A | p.Met507Ile | p.M507I | O14936 | protein_coding | tolerated(0.25) | benign(0.015) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
CASK | SNV | Missense_Mutation | | c.2454N>G | p.Ile818Met | p.I818M | O14936 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CASK | SNV | Missense_Mutation | | c.1916N>A | p.Arg639Gln | p.R639Q | O14936 | protein_coding | tolerated(0.52) | benign(0.313) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CASK | insertion | Frame_Shift_Ins | novel | c.14_15insGTTGGGGTTATTGTTACCTTGCATGTACCATAGACCATTTTTGAAAC | p.Asp5GlufsTer29 | p.D5Efs*29 | O14936 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CASK | insertion | Frame_Shift_Ins | novel | c.1519dupA | p.Met507AsnfsTer3 | p.M507Nfs*3 | O14936 | protein_coding | | | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |