Tissue | Expression Dynamics | Abbreviation |
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:00426923 | Breast | IDC | muscle cell differentiation | 44/1434 | 384/18723 | 4.77e-03 | 3.66e-02 | 44 |
GO:00030125 | Breast | IDC | muscle system process | 50/1434 | 452/18723 | 5.52e-03 | 4.05e-02 | 50 |
GO:00511463 | Breast | IDC | striated muscle cell differentiation | 34/1434 | 283/18723 | 6.00e-03 | 4.31e-02 | 34 |
GO:000301212 | Breast | DCIS | muscle system process | 50/1390 | 452/18723 | 3.02e-03 | 2.57e-02 | 50 |
GO:004269211 | Breast | DCIS | muscle cell differentiation | 43/1390 | 384/18723 | 4.56e-03 | 3.49e-02 | 43 |
GO:00310328 | Breast | DCIS | actomyosin structure organization | 25/1390 | 196/18723 | 5.59e-03 | 4.06e-02 | 25 |
GO:005114611 | Breast | DCIS | striated muscle cell differentiation | 33/1390 | 283/18723 | 6.63e-03 | 4.62e-02 | 33 |
GO:00310329 | Cervix | CC | actomyosin structure organization | 43/2311 | 196/18723 | 1.11e-04 | 1.40e-03 | 43 |
GO:00426924 | Cervix | CC | muscle cell differentiation | 69/2311 | 384/18723 | 8.12e-04 | 7.09e-03 | 69 |
GO:00511464 | Cervix | CC | striated muscle cell differentiation | 50/2311 | 283/18723 | 5.53e-03 | 3.19e-02 | 50 |
GO:00902578 | Cervix | CC | regulation of muscle system process | 45/2311 | 252/18723 | 6.73e-03 | 3.70e-02 | 45 |
GO:00435024 | Cervix | CC | regulation of muscle adaptation | 21/2311 | 98/18723 | 7.71e-03 | 4.09e-02 | 21 |
GO:005114612 | Cervix | HSIL_HPV | striated muscle cell differentiation | 22/737 | 283/18723 | 1.94e-03 | 2.04e-02 | 22 |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:0045333110 | Esophagus | ESCC | cellular respiration | 173/8552 | 230/18723 | 4.53e-20 | 5.99e-18 | 173 |
GO:0009060110 | Esophagus | ESCC | aerobic respiration | 145/8552 | 189/18723 | 2.16e-18 | 2.21e-16 | 145 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:0010563111 | Esophagus | ESCC | negative regulation of phosphorus metabolic process | 274/8552 | 442/18723 | 2.32e-12 | 9.41e-11 | 274 |
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 |
NNT | SNV | Missense_Mutation | | c.3171N>G | p.Phe1057Leu | p.F1057L | Q13423 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-A2-A04X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NNT | SNV | Missense_Mutation | novel | c.1197N>G | p.Ile399Met | p.I399M | Q13423 | protein_coding | tolerated(1) | benign(0.005) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NNT | SNV | Missense_Mutation | | c.3111N>C | p.Gln1037His | p.Q1037H | Q13423 | protein_coding | tolerated(0.11) | benign(0.074) | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NNT | SNV | Missense_Mutation | | c.2028G>T | p.Met676Ile | p.M676I | Q13423 | protein_coding | tolerated(0.28) | possibly_damaging(0.761) | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
NNT | SNV | Missense_Mutation | | c.1243N>C | p.Asp415His | p.D415H | Q13423 | protein_coding | deleterious(0.01) | possibly_damaging(0.56) | TCGA-BH-A18J-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
NNT | insertion | Nonsense_Mutation | novel | c.1552_1553insACAACCCTATGCAACTTCTCTAATTTTTAACTGGAA | p.Gly518delinsAspAsnProMetGlnLeuLeuTerPheLeuThrGlyArg | p.G518delinsDNPMQLL*FLTGR | Q13423 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NNT | insertion | Nonsense_Mutation | novel | c.3216_3217insGATTGTTCCAGCCCCTAATTTGCTTATAC | p.Cys1073AspfsTer6 | p.C1073Dfs*6 | Q13423 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NNT | deletion | Frame_Shift_Del | | c.639delN | p.Phe215LeufsTer17 | p.F215Lfs*17 | Q13423 | protein_coding | | | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NNT | deletion | Frame_Shift_Del | novel | c.431delN | p.Leu145Ter | p.L145* | Q13423 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
NNT | deletion | Frame_Shift_Del | novel | c.1304delN | p.Phe436SerfsTer15 | p.F436Sfs*15 | Q13423 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |