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/TSC2_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/TSC2_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/TSC2_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/TSC2_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/TSC2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/TSC2_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:00423263 | Colorectum | MSI-H | negative regulation of phosphorylation | 45/1319 | 385/18723 | 5.71e-04 | 1.14e-02 | 45 |
GO:00511703 | Colorectum | MSI-H | import into nucleus | 23/1319 | 159/18723 | 7.75e-04 | 1.44e-02 | 23 |
GO:00019333 | Colorectum | MSI-H | negative regulation of protein phosphorylation | 40/1319 | 342/18723 | 1.11e-03 | 1.86e-02 | 40 |
GO:00066063 | Colorectum | MSI-H | protein import into nucleus | 22/1319 | 155/18723 | 1.28e-03 | 2.03e-02 | 22 |
GO:00224113 | Colorectum | MSI-H | cellular component disassembly | 47/1319 | 443/18723 | 3.26e-03 | 3.99e-02 | 47 |
GO:19015243 | Colorectum | MSI-H | regulation of mitophagy | 4/1319 | 10/18723 | 3.65e-03 | 4.28e-02 | 4 |
GO:00004223 | Colorectum | MSI-H | autophagy of mitochondrion | 13/1319 | 81/18723 | 4.17e-03 | 4.73e-02 | 13 |
GO:00617263 | Colorectum | MSI-H | mitochondrion disassembly | 13/1319 | 81/18723 | 4.17e-03 | 4.73e-02 | 13 |
GO:00098964 | Colorectum | FAP | positive regulation of catabolic process | 126/2622 | 492/18723 | 3.76e-12 | 2.56e-09 | 126 |
GO:00098954 | Colorectum | FAP | negative regulation of catabolic process | 91/2622 | 320/18723 | 9.66e-12 | 4.96e-09 | 91 |
GO:00313314 | Colorectum | FAP | positive regulation of cellular catabolic process | 110/2622 | 427/18723 | 6.09e-11 | 2.19e-08 | 110 |
GO:00313304 | Colorectum | FAP | negative regulation of cellular catabolic process | 77/2622 | 262/18723 | 6.79e-11 | 2.31e-08 | 77 |
GO:00434343 | Colorectum | FAP | response to peptide hormone | 100/2622 | 414/18723 | 1.74e-08 | 1.84e-06 | 100 |
GO:19016533 | Colorectum | FAP | cellular response to peptide | 89/2622 | 359/18723 | 2.93e-08 | 2.64e-06 | 89 |
GO:00510562 | Colorectum | FAP | regulation of small GTPase mediated signal transduction | 78/2622 | 302/18723 | 3.25e-08 | 2.85e-06 | 78 |
GO:00160553 | Colorectum | FAP | Wnt signaling pathway | 104/2622 | 444/18723 | 4.92e-08 | 3.92e-06 | 104 |
GO:00713753 | Colorectum | FAP | cellular response to peptide hormone stimulus | 75/2622 | 290/18723 | 5.60e-08 | 4.29e-06 | 75 |
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:01987383 | Colorectum | FAP | cell-cell signaling by wnt | 104/2622 | 446/18723 | 6.26e-08 | 4.54e-06 | 104 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa04919 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa04152 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
hsa05163 | Colorectum | AD | Human cytomegalovirus infection | 75/2092 | 225/8465 | 2.00e-03 | 1.10e-02 | 7.01e-03 | 75 |
hsa04140 | Colorectum | AD | Autophagy - animal | 49/2092 | 141/8465 | 4.58e-03 | 2.20e-02 | 1.40e-02 | 49 |
hsa04218 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa04211 | Colorectum | AD | Longevity regulating pathway | 33/2092 | 89/8465 | 6.15e-03 | 2.68e-02 | 1.71e-02 | 33 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa049191 | Colorectum | AD | Thyroid hormone signaling pathway | 51/2092 | 121/8465 | 1.71e-05 | 1.73e-04 | 1.10e-04 | 51 |
hsa041521 | Colorectum | AD | AMPK signaling pathway | 47/2092 | 121/8465 | 3.74e-04 | 2.82e-03 | 1.80e-03 | 47 |
hsa051631 | Colorectum | AD | Human cytomegalovirus infection | 75/2092 | 225/8465 | 2.00e-03 | 1.10e-02 | 7.01e-03 | 75 |
hsa041401 | Colorectum | AD | Autophagy - animal | 49/2092 | 141/8465 | 4.58e-03 | 2.20e-02 | 1.40e-02 | 49 |
hsa042181 | Colorectum | AD | Cellular senescence | 53/2092 | 156/8465 | 5.55e-03 | 2.48e-02 | 1.58e-02 | 53 |
hsa042111 | Colorectum | AD | Longevity regulating pathway | 33/2092 | 89/8465 | 6.15e-03 | 2.68e-02 | 1.71e-02 | 33 |
hsa047142 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa049192 | Colorectum | SER | Thyroid hormone signaling pathway | 40/1580 | 121/8465 | 1.02e-04 | 1.06e-03 | 7.67e-04 | 40 |
hsa041402 | Colorectum | SER | Autophagy - animal | 39/1580 | 141/8465 | 5.43e-03 | 3.28e-02 | 2.38e-02 | 39 |
hsa051632 | Colorectum | SER | Human cytomegalovirus infection | 57/1580 | 225/8465 | 7.40e-03 | 3.84e-02 | 2.79e-02 | 57 |
hsa047143 | Colorectum | SER | Thermogenesis | 106/1580 | 232/8465 | 1.15e-21 | 6.34e-20 | 4.61e-20 | 106 |
hsa049193 | Colorectum | SER | Thyroid hormone signaling pathway | 40/1580 | 121/8465 | 1.02e-04 | 1.06e-03 | 7.67e-04 | 40 |
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 |
TSC2 | SNV | Missense_Mutation | | c.2106N>A | p.Asp702Glu | p.D702E | P49815 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
TSC2 | SNV | Missense_Mutation | | c.4571N>T | p.Ser1524Leu | p.S1524L | P49815 | protein_coding | tolerated(0.14) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TSC2 | SNV | Missense_Mutation | | c.2828N>A | p.Arg943Lys | p.R943K | P49815 | protein_coding | tolerated(0.09) | possibly_damaging(0.867) | TCGA-AC-A2B8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | PD |
TSC2 | SNV | Missense_Mutation | | c.4346C>G | p.Ser1449Cys | p.S1449C | P49815 | protein_coding | tolerated(0.12) | probably_damaging(0.987) | TCGA-B6-A0RQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TSC2 | SNV | Missense_Mutation | | c.1702N>G | p.Leu568Val | p.L568V | P49815 | protein_coding | tolerated(0.17) | probably_damaging(0.987) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
TSC2 | SNV | Missense_Mutation | | c.1273N>T | p.Asn425Tyr | p.N425Y | P49815 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
TSC2 | SNV | Missense_Mutation | | c.539N>C | p.Leu180Pro | p.L180P | P49815 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E9-A1RB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate | SD |
TSC2 | insertion | Frame_Shift_Ins | novel | c.2666_2667insATTGAAGAAATTAGACAAATTCAGGGAA | p.His890LeufsTer34 | p.H890Lfs*34 | P49815 | protein_coding | | | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TSC2 | deletion | Frame_Shift_Del | novel | c.3113delT | p.Phe1038SerfsTer15 | p.F1038Sfs*15 | P49815 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TSC2 | SNV | Missense_Mutation | rs764925296 | c.629C>T | p.Ala210Val | p.A210V | P49815 | protein_coding | tolerated(0.46) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |