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/CBLC_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/CBLC_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/CBLC_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/CBLC_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 |
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/CBLC_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/CBLC_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:001056328 | Skin | cSCC | negative regulation of phosphorus metabolic process | 160/4864 | 442/18723 | 1.04e-06 | 1.85e-05 | 160 |
GO:003812724 | Skin | cSCC | ERBB signaling pathway | 55/4864 | 121/18723 | 2.77e-06 | 4.38e-05 | 55 |
GO:004232626 | Skin | cSCC | negative regulation of phosphorylation | 137/4864 | 385/18723 | 1.63e-05 | 1.99e-04 | 137 |
GO:000717323 | Skin | cSCC | epidermal growth factor receptor signaling pathway | 48/4864 | 108/18723 | 2.42e-05 | 2.76e-04 | 48 |
GO:000193326 | Skin | cSCC | negative regulation of protein phosphorylation | 123/4864 | 342/18723 | 2.48e-05 | 2.82e-04 | 123 |
GO:005134829 | Skin | cSCC | negative regulation of transferase activity | 100/4864 | 268/18723 | 2.60e-05 | 2.94e-04 | 100 |
GO:007190024 | Skin | cSCC | regulation of protein serine/threonine kinase activity | 123/4864 | 359/18723 | 2.70e-04 | 2.17e-03 | 123 |
GO:00610998 | Skin | cSCC | negative regulation of protein tyrosine kinase activity | 17/4864 | 31/18723 | 5.90e-04 | 4.27e-03 | 17 |
GO:004205813 | Skin | cSCC | regulation of epidermal growth factor receptor signaling pathway | 32/4864 | 73/18723 | 6.98e-04 | 4.97e-03 | 32 |
GO:190118414 | Skin | cSCC | regulation of ERBB signaling pathway | 34/4864 | 79/18723 | 7.23e-04 | 5.06e-03 | 34 |
GO:000717612 | Skin | cSCC | regulation of epidermal growth factor-activated receptor activity | 16/4864 | 30/18723 | 1.27e-03 | 8.19e-03 | 16 |
GO:004205910 | Skin | cSCC | negative regulation of epidermal growth factor receptor signaling pathway | 15/4864 | 28/18723 | 1.69e-03 | 1.04e-02 | 15 |
GO:0006469110 | Skin | cSCC | negative regulation of protein kinase activity | 74/4864 | 212/18723 | 2.36e-03 | 1.37e-02 | 74 |
GO:006109721 | Skin | cSCC | regulation of protein tyrosine kinase activity | 36/4864 | 90/18723 | 2.48e-03 | 1.42e-02 | 36 |
GO:0033673110 | Skin | cSCC | negative regulation of kinase activity | 81/4864 | 237/18723 | 2.95e-03 | 1.64e-02 | 81 |
GO:190118510 | Skin | cSCC | negative regulation of ERBB signaling pathway | 16/4864 | 32/18723 | 3.04e-03 | 1.67e-02 | 16 |
GO:00507323 | Skin | cSCC | negative regulation of peptidyl-tyrosine phosphorylation | 25/4864 | 59/18723 | 4.46e-03 | 2.29e-02 | 25 |
GO:00513486 | Stomach | GC | negative regulation of transferase activity | 36/1159 | 268/18723 | 9.70e-06 | 3.27e-04 | 36 |
GO:00064696 | Stomach | GC | negative regulation of protein kinase activity | 27/1159 | 212/18723 | 2.93e-04 | 4.70e-03 | 27 |
GO:00459366 | Stomach | GC | negative regulation of phosphate metabolic process | 46/1159 | 441/18723 | 3.71e-04 | 5.73e-03 | 46 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04144 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa04120 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
hsa041441 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
hsa041201 | Colorectum | AD | Ubiquitin mediated proteolysis | 58/2092 | 142/8465 | 1.46e-05 | 1.53e-04 | 9.76e-05 | 58 |
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 |
hsa041445 | Colorectum | MSS | Endocytosis | 102/1875 | 251/8465 | 1.85e-11 | 4.43e-10 | 2.71e-10 | 102 |
hsa041205 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041446 | Colorectum | FAP | Endocytosis | 78/1404 | 251/8465 | 6.20e-09 | 2.96e-07 | 1.80e-07 | 78 |
hsa041206 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa041447 | Colorectum | FAP | Endocytosis | 78/1404 | 251/8465 | 6.20e-09 | 2.96e-07 | 1.80e-07 | 78 |
hsa041207 | Colorectum | FAP | Ubiquitin mediated proteolysis | 51/1404 | 142/8465 | 1.55e-08 | 5.84e-07 | 3.55e-07 | 51 |
hsa041448 | Colorectum | CRC | Endocytosis | 65/1091 | 251/8465 | 1.27e-08 | 1.06e-06 | 7.19e-07 | 65 |
hsa041208 | Colorectum | CRC | Ubiquitin mediated proteolysis | 42/1091 | 142/8465 | 9.98e-08 | 6.67e-06 | 4.52e-06 | 42 |
hsa041449 | Colorectum | CRC | Endocytosis | 65/1091 | 251/8465 | 1.27e-08 | 1.06e-06 | 7.19e-07 | 65 |
hsa041209 | Colorectum | CRC | Ubiquitin mediated proteolysis | 42/1091 | 142/8465 | 9.98e-08 | 6.67e-06 | 4.52e-06 | 42 |
hsa0412027 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
hsa04144210 | Esophagus | ESCC | Endocytosis | 186/4205 | 251/8465 | 9.74e-16 | 4.66e-14 | 2.39e-14 | 186 |
hsa0412036 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
hsa0414437 | Esophagus | ESCC | Endocytosis | 186/4205 | 251/8465 | 9.74e-16 | 4.66e-14 | 2.39e-14 | 186 |
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 |
CBLC | SNV | Missense_Mutation | novel | c.740N>C | p.Val247Ala | p.V247A | Q9ULV8 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CBLC | SNV | Missense_Mutation | | c.1387C>G | p.Pro463Ala | p.P463A | Q9ULV8 | protein_coding | tolerated_low_confidence(0.15) | benign(0.003) | TCGA-AR-A1AY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Doxorubicin | SD |
CBLC | SNV | Missense_Mutation | rs752145860 | c.499N>G | p.Arg167Gly | p.R167G | Q9ULV8 | protein_coding | deleterious(0.01) | probably_damaging(0.985) | TCGA-B6-A400-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CBLC | insertion | Nonsense_Mutation | novel | c.860_861insACCCAGGACCCCAGAGAGTTGATAACTCAGAGG | p.Thr287_Ile288insProArgThrProGluSerTerTerLeuArgGly | p.T287_I288insPRTPES**LRG | Q9ULV8 | protein_coding | | | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CBLC | deletion | Frame_Shift_Del | novel | c.1407delN | p.Asp470ThrfsTer? | p.D470Tfs*? | Q9ULV8 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
CBLC | SNV | Missense_Mutation | rs770372319 | c.40N>A | p.Glu14Lys | p.E14K | Q9ULV8 | protein_coding | deleterious(0.03) | benign(0.003) | TCGA-C5-A1MK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
CBLC | SNV | Missense_Mutation | rs763654909 | c.1066G>A | p.Glu356Lys | p.E356K | Q9ULV8 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CBLC | SNV | Missense_Mutation | novel | c.1186N>C | p.Trp396Arg | p.W396R | Q9ULV8 | protein_coding | tolerated(0.37) | benign(0) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CBLC | SNV | Missense_Mutation | | c.706N>T | p.Pro236Ser | p.P236S | Q9ULV8 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CBLC | SNV | Missense_Mutation | rs745556828 | c.1295N>T | p.Ser432Leu | p.S432L | Q9ULV8 | protein_coding | deleterious(0.04) | benign(0) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |