Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | 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 | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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:0016032113 | Thyroid | PTC | viral process | 236/5968 | 415/18723 | 2.48e-26 | 8.24e-24 | 236 |
GO:0010563113 | Thyroid | PTC | negative regulation of phosphorus metabolic process | 219/5968 | 442/18723 | 4.47e-15 | 3.07e-13 | 219 |
GO:0045936113 | Thyroid | PTC | negative regulation of phosphate metabolic process | 218/5968 | 441/18723 | 7.08e-15 | 4.75e-13 | 218 |
GO:0019080110 | Thyroid | PTC | viral gene expression | 65/5968 | 94/18723 | 1.25e-13 | 6.69e-12 | 65 |
GO:003530427 | Thyroid | PTC | regulation of protein dephosphorylation | 51/5968 | 90/18723 | 1.01e-06 | 1.50e-05 | 51 |
GO:003530324 | Thyroid | PTC | regulation of dephosphorylation | 67/5968 | 128/18723 | 1.19e-06 | 1.72e-05 | 67 |
GO:001827915 | Thyroid | PTC | protein N-linked glycosylation via asparagine | 18/5968 | 23/18723 | 6.38e-06 | 7.63e-05 | 18 |
GO:00064878 | Thyroid | PTC | protein N-linked glycosylation | 38/5968 | 65/18723 | 8.71e-06 | 9.94e-05 | 38 |
GO:001631116 | Thyroid | PTC | dephosphorylation | 174/5968 | 417/18723 | 1.20e-05 | 1.31e-04 | 174 |
GO:000647020 | Thyroid | PTC | protein dephosphorylation | 123/5968 | 281/18723 | 1.69e-05 | 1.77e-04 | 123 |
GO:001819615 | Thyroid | PTC | peptidyl-asparagine modification | 18/5968 | 24/18723 | 1.79e-05 | 1.86e-04 | 18 |
GO:001092116 | Thyroid | PTC | regulation of phosphatase activity | 44/5968 | 84/18723 | 7.53e-05 | 6.48e-04 | 44 |
GO:004366620 | Thyroid | PTC | regulation of phosphoprotein phosphatase activity | 32/5968 | 58/18723 | 2.01e-04 | 1.50e-03 | 32 |
GO:00190827 | Thyroid | PTC | viral protein processing | 18/5968 | 29/18723 | 7.83e-04 | 4.86e-03 | 18 |
GO:00064866 | Thyroid | PTC | protein glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:00434136 | Thyroid | PTC | macromolecule glycosylation | 94/5968 | 226/18723 | 1.25e-03 | 7.13e-03 | 94 |
GO:00353058 | Thyroid | PTC | negative regulation of dephosphorylation | 24/5968 | 45/18723 | 2.28e-03 | 1.20e-02 | 24 |
GO:003530819 | Thyroid | PTC | negative regulation of protein dephosphorylation | 19/5968 | 34/18723 | 3.21e-03 | 1.57e-02 | 19 |
GO:0051346112 | Thyroid | PTC | negative regulation of hydrolase activity | 146/5968 | 379/18723 | 3.33e-03 | 1.62e-02 | 146 |
GO:00700855 | Thyroid | PTC | glycosylation | 96/5968 | 240/18723 | 4.57e-03 | 2.15e-02 | 96 |
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 |
MGAT5 | SNV | Missense_Mutation | rs375709714 | c.700N>A | p.Glu234Lys | p.E234K | Q09328 | protein_coding | tolerated(0.2) | probably_damaging(0.991) | TCGA-3C-AAAU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | zoladex | SD |
MGAT5 | SNV | Missense_Mutation | novel | c.133A>C | p.Met45Leu | p.M45L | Q09328 | protein_coding | tolerated(0.25) | benign(0.001) | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
MGAT5 | SNV | Missense_Mutation | rs548835362 | c.110N>A | p.Arg37Gln | p.R37Q | Q09328 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MGAT5 | SNV | Missense_Mutation | | c.1080N>C | p.Lys360Asn | p.K360N | Q09328 | protein_coding | tolerated(0.06) | probably_damaging(0.994) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MGAT5 | SNV | Missense_Mutation | rs755158785 | c.742G>A | p.Ala248Thr | p.A248T | Q09328 | protein_coding | tolerated(0.4) | benign(0.003) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
MGAT5 | SNV | Missense_Mutation | novel | c.1304N>T | p.Ser435Ile | p.S435I | Q09328 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-D8-A27R-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin+cyclophosphamide | SD |
MGAT5 | SNV | Missense_Mutation | rs376303600 | c.1181C>T | p.Ser394Leu | p.S394L | Q09328 | protein_coding | tolerated(0.86) | benign(0.007) | TCGA-E9-A295-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MGAT5 | insertion | Frame_Shift_Ins | novel | c.135_136insTTAACACACGCAGACGCACA | p.Arg47ThrfsTer38 | p.R47Tfs*38 | Q09328 | protein_coding | | | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
MGAT5 | insertion | In_Frame_Ins | novel | c.514_515insTTTTCATTGCTGAGGTTCAGTGTGGTCAAG | p.Cys172delinsPhePheIleAlaGluValGlnCysGlyGlnGly | p.C172delinsFFIAEVQCGQG | Q09328 | protein_coding | | | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
MGAT5 | insertion | In_Frame_Ins | novel | c.1901_1902insTGGAAG | p.Pro634_Leu635insGlySer | p.P634_L635insGS | Q09328 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |