Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | | 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:0031331110 | Oral cavity | LP | positive regulation of cellular catabolic process | 163/4623 | 427/18723 | 3.03e-10 | 1.59e-08 | 163 |
GO:0009895110 | Oral cavity | LP | negative regulation of catabolic process | 128/4623 | 320/18723 | 8.36e-10 | 3.91e-08 | 128 |
GO:0031330110 | Oral cavity | LP | negative regulation of cellular catabolic process | 107/4623 | 262/18723 | 5.25e-09 | 2.16e-07 | 107 |
GO:0051348110 | Oral cavity | LP | negative regulation of transferase activity | 106/4623 | 268/18723 | 4.60e-08 | 1.61e-06 | 106 |
GO:001082118 | Oral cavity | LP | regulation of mitochondrion organization | 65/4623 | 144/18723 | 6.61e-08 | 2.24e-06 | 65 |
GO:000042215 | Oral cavity | LP | autophagy of mitochondrion | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:006172615 | Oral cavity | LP | mitochondrion disassembly | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:001063919 | Oral cavity | LP | negative regulation of organelle organization | 127/4623 | 348/18723 | 5.07e-07 | 1.40e-05 | 127 |
GO:001624113 | Oral cavity | LP | regulation of macroautophagy | 61/4623 | 141/18723 | 1.00e-06 | 2.50e-05 | 61 |
GO:0010563110 | Oral cavity | LP | negative regulation of phosphorus metabolic process | 153/4623 | 442/18723 | 1.47e-06 | 3.53e-05 | 153 |
GO:0045936110 | Oral cavity | LP | negative regulation of phosphate metabolic process | 152/4623 | 441/18723 | 2.10e-06 | 4.77e-05 | 152 |
GO:005117013 | Oral cavity | LP | import into nucleus | 65/4623 | 159/18723 | 4.78e-06 | 9.69e-05 | 65 |
GO:003010017 | Oral cavity | LP | regulation of endocytosis | 81/4623 | 211/18723 | 6.57e-06 | 1.29e-04 | 81 |
GO:000660612 | Oral cavity | LP | protein import into nucleus | 62/4623 | 155/18723 | 1.76e-05 | 3.04e-04 | 62 |
GO:0042326110 | Oral cavity | LP | negative regulation of phosphorylation | 131/4623 | 385/18723 | 2.10e-05 | 3.46e-04 | 131 |
GO:0043434110 | Oral cavity | LP | response to peptide hormone | 138/4623 | 414/18723 | 4.00e-05 | 5.87e-04 | 138 |
GO:003367318 | Oral cavity | LP | negative regulation of kinase activity | 86/4623 | 237/18723 | 4.19e-05 | 6.07e-04 | 86 |
GO:190165317 | Oral cavity | LP | cellular response to peptide | 122/4623 | 359/18723 | 4.22e-05 | 6.10e-04 | 122 |
GO:0001933110 | Oral cavity | LP | negative regulation of protein phosphorylation | 117/4623 | 342/18723 | 4.34e-05 | 6.22e-04 | 117 |
GO:001050711 | Oral cavity | LP | negative regulation of autophagy | 38/4623 | 85/18723 | 4.36e-05 | 6.24e-04 | 38 |
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 |