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/CBLB_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/CBLB_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/CBLB_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/CBLB_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/CBLB_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/CBLB_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/CBLB_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/CBLB_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/CBLB_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/CBLB_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Thyroid | ![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/Thyroid/CBLB_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00381274 | Colorectum | FAP | ERBB signaling pathway | 45/2622 | 121/18723 | 1.64e-10 | 4.38e-08 | 45 |
GO:00069134 | Colorectum | FAP | nucleocytoplasmic transport | 77/2622 | 301/18723 | 6.15e-08 | 4.54e-06 | 77 |
GO:00511694 | Colorectum | FAP | nuclear transport | 77/2622 | 301/18723 | 6.15e-08 | 4.54e-06 | 77 |
GO:00430873 | Colorectum | FAP | regulation of GTPase activity | 85/2622 | 348/18723 | 1.20e-07 | 7.68e-06 | 85 |
GO:00457324 | Colorectum | FAP | positive regulation of protein catabolic process | 61/2622 | 231/18723 | 4.38e-07 | 2.35e-05 | 61 |
GO:00725944 | Colorectum | FAP | establishment of protein localization to organelle | 96/2622 | 422/18723 | 6.63e-07 | 3.20e-05 | 96 |
GO:19033204 | Colorectum | FAP | regulation of protein modification by small protein conjugation or removal | 61/2622 | 242/18723 | 2.36e-06 | 9.21e-05 | 61 |
GO:19011842 | Colorectum | FAP | regulation of ERBB signaling pathway | 27/2622 | 79/18723 | 4.77e-06 | 1.57e-04 | 27 |
GO:19011853 | Colorectum | FAP | negative regulation of ERBB signaling pathway | 15/2622 | 32/18723 | 8.00e-06 | 2.38e-04 | 15 |
GO:00420582 | Colorectum | FAP | regulation of epidermal growth factor receptor signaling pathway | 25/2622 | 73/18723 | 1.02e-05 | 2.93e-04 | 25 |
GO:00510984 | Colorectum | FAP | regulation of binding | 81/2622 | 363/18723 | 1.04e-05 | 2.97e-04 | 81 |
GO:00513484 | Colorectum | FAP | negative regulation of transferase activity | 63/2622 | 268/18723 | 1.82e-05 | 4.57e-04 | 63 |
GO:00345044 | Colorectum | FAP | protein localization to nucleus | 66/2622 | 290/18723 | 3.47e-05 | 7.64e-04 | 66 |
GO:00420592 | Colorectum | FAP | negative regulation of epidermal growth factor receptor signaling pathway | 13/2622 | 28/18723 | 3.68e-05 | 7.99e-04 | 13 |
GO:00019334 | Colorectum | FAP | negative regulation of protein phosphorylation | 75/2622 | 342/18723 | 4.02e-05 | 8.53e-04 | 75 |
GO:00459364 | Colorectum | FAP | negative regulation of phosphate metabolic process | 92/2622 | 441/18723 | 4.43e-05 | 9.26e-04 | 92 |
GO:00105634 | Colorectum | FAP | negative regulation of phosphorus metabolic process | 92/2622 | 442/18723 | 4.84e-05 | 9.91e-04 | 92 |
GO:00064693 | Colorectum | FAP | negative regulation of protein kinase activity | 51/2622 | 212/18723 | 5.82e-05 | 1.15e-03 | 51 |
GO:00313964 | Colorectum | FAP | regulation of protein ubiquitination | 50/2622 | 210/18723 | 9.03e-05 | 1.59e-03 | 50 |
GO:00423264 | Colorectum | FAP | negative regulation of phosphorylation | 81/2622 | 385/18723 | 9.16e-05 | 1.59e-03 | 81 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0412014 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa0414418 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
hsa0401210 | Cervix | CC | ErbB signaling pathway | 28/1267 | 85/8465 | 2.40e-05 | 1.82e-04 | 1.08e-04 | 28 |
hsa046254 | Cervix | CC | C-type lectin receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa046604 | Cervix | CC | T cell receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa0412015 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
hsa0414419 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
hsa0401213 | Cervix | CC | ErbB signaling pathway | 28/1267 | 85/8465 | 2.40e-05 | 1.82e-04 | 1.08e-04 | 28 |
hsa0462511 | Cervix | CC | C-type lectin receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa0466011 | Cervix | CC | T cell receptor signaling pathway | 25/1267 | 104/8465 | 9.52e-03 | 2.94e-02 | 1.74e-02 | 25 |
hsa04012 | Colorectum | AD | ErbB signaling pathway | 31/2092 | 85/8465 | 1.02e-02 | 3.91e-02 | 2.50e-02 | 31 |
hsa040121 | Colorectum | AD | ErbB signaling pathway | 31/2092 | 85/8465 | 1.02e-02 | 3.91e-02 | 2.50e-02 | 31 |
hsa041442 | Colorectum | SER | Endocytosis | 81/1580 | 251/8465 | 1.14e-07 | 2.36e-06 | 1.71e-06 | 81 |
hsa041202 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041443 | Colorectum | SER | Endocytosis | 81/1580 | 251/8465 | 1.14e-07 | 2.36e-06 | 1.71e-06 | 81 |
hsa041203 | Colorectum | SER | Ubiquitin mediated proteolysis | 39/1580 | 142/8465 | 6.18e-03 | 3.66e-02 | 2.66e-02 | 39 |
hsa041444 | Colorectum | MSS | Endocytosis | 102/1875 | 251/8465 | 1.85e-11 | 4.43e-10 | 2.71e-10 | 102 |
hsa041204 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa040122 | Colorectum | MSS | ErbB signaling pathway | 30/1875 | 85/8465 | 3.73e-03 | 1.67e-02 | 1.02e-02 | 30 |
hsa041445 | Colorectum | MSS | Endocytosis | 102/1875 | 251/8465 | 1.85e-11 | 4.43e-10 | 2.71e-10 | 102 |
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 |
CBLB | SNV | Missense_Mutation | | c.422G>A | p.Arg141Gln | p.R141Q | Q13191 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CBLB | SNV | Missense_Mutation | | c.1753N>A | p.Asp585Asn | p.D585N | Q13191 | protein_coding | tolerated_low_confidence(0.06) | benign(0.001) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CBLB | SNV | Missense_Mutation | rs748390313 | c.2200N>T | p.Arg734Trp | p.R734W | Q13191 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.936) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CBLB | SNV | Missense_Mutation | novel | c.68N>G | p.Leu23Trp | p.L23W | Q13191 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CBLB | SNV | Missense_Mutation | | c.229N>G | p.Ile77Val | p.I77V | Q13191 | protein_coding | deleterious(0.02) | possibly_damaging(0.876) | TCGA-AO-A03L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
CBLB | SNV | Missense_Mutation | | c.769C>T | p.His257Tyr | p.H257Y | Q13191 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
CBLB | SNV | Missense_Mutation | | c.952N>G | p.Gln318Glu | p.Q318E | Q13191 | protein_coding | deleterious(0) | possibly_damaging(0.833) | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
CBLB | SNV | Missense_Mutation | | c.1210G>A | p.Asp404Asn | p.D404N | Q13191 | protein_coding | deleterious(0.04) | probably_damaging(0.95) | TCGA-BH-A0B5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
CBLB | SNV | Missense_Mutation | | c.2483C>T | p.Ala828Val | p.A828V | Q13191 | protein_coding | tolerated_low_confidence(0.4) | benign(0.116) | TCGA-BH-A0C1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
CBLB | SNV | Missense_Mutation | | c.1073N>G | p.Glu358Gly | p.E358G | Q13191 | protein_coding | deleterious(0) | benign(0.241) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |