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:003158913 | Lung | AIS | cell-substrate adhesion | 80/1849 | 363/18723 | 3.80e-12 | 3.16e-09 | 80 |
GO:001081013 | Lung | AIS | regulation of cell-substrate adhesion | 55/1849 | 221/18723 | 7.48e-11 | 2.49e-08 | 55 |
GO:000195212 | Lung | AIS | regulation of cell-matrix adhesion | 38/1849 | 128/18723 | 2.93e-10 | 7.42e-08 | 38 |
GO:009900311 | Lung | AIS | vesicle-mediated transport in synapse | 42/1849 | 200/18723 | 1.87e-06 | 1.10e-04 | 42 |
GO:004206013 | Lung | AIS | wound healing | 71/1849 | 422/18723 | 5.32e-06 | 2.52e-04 | 71 |
GO:009950411 | Lung | AIS | synaptic vesicle cycle | 36/1849 | 181/18723 | 3.42e-05 | 1.05e-03 | 36 |
GO:000915013 | Lung | AIS | purine ribonucleotide metabolic process | 58/1849 | 368/18723 | 2.33e-04 | 4.68e-03 | 58 |
GO:000925913 | Lung | AIS | ribonucleotide metabolic process | 59/1849 | 385/18723 | 4.36e-04 | 7.41e-03 | 59 |
GO:000616313 | Lung | AIS | purine nucleotide metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:001969313 | Lung | AIS | ribose phosphate metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:007252113 | Lung | AIS | purine-containing compound metabolic process | 61/1849 | 416/18723 | 1.10e-03 | 1.42e-02 | 61 |
GO:00108121 | Lung | AIS | negative regulation of cell-substrate adhesion | 15/1849 | 68/18723 | 2.24e-03 | 2.38e-02 | 15 |
GO:005067312 | Lung | AIS | epithelial cell proliferation | 62/1849 | 437/18723 | 2.26e-03 | 2.39e-02 | 62 |
GO:004671012 | Lung | AIS | GDP metabolic process | 5/1849 | 11/18723 | 2.59e-03 | 2.64e-02 | 5 |
GO:001095912 | Lung | AIS | regulation of metal ion transport | 58/1849 | 406/18723 | 2.63e-03 | 2.67e-02 | 58 |
GO:001083712 | Lung | AIS | regulation of keratinocyte proliferation | 9/1849 | 35/18723 | 5.76e-03 | 4.81e-02 | 9 |
GO:0006816 | Lung | AIS | calcium ion transport | 58/1849 | 422/18723 | 6.08e-03 | 4.98e-02 | 58 |
GO:000716031 | Lung | MIAC | cell-matrix adhesion | 35/967 | 233/18723 | 1.26e-08 | 7.17e-06 | 35 |
GO:000195231 | Lung | MIAC | regulation of cell-matrix adhesion | 24/967 | 128/18723 | 3.46e-08 | 1.37e-05 | 24 |
GO:001081032 | Lung | MIAC | regulation of cell-substrate adhesion | 33/967 | 221/18723 | 3.79e-08 | 1.39e-05 | 33 |
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 |