GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:000701520 | Oral cavity | OSCC | actin filament organization | 230/7305 | 442/18723 | 1.37e-08 | 2.77e-07 | 230 |
GO:003297020 | Oral cavity | OSCC | regulation of actin filament-based process | 209/7305 | 397/18723 | 1.89e-08 | 3.72e-07 | 209 |
GO:001003820 | Oral cavity | OSCC | response to metal ion | 188/7305 | 373/18723 | 4.34e-06 | 5.00e-05 | 188 |
GO:005134618 | Oral cavity | OSCC | negative regulation of hydrolase activity | 182/7305 | 379/18723 | 1.98e-04 | 1.32e-03 | 182 |
GO:00605378 | Oral cavity | OSCC | muscle tissue development | 185/7305 | 403/18723 | 2.60e-03 | 1.14e-02 | 185 |
GO:00327815 | Oral cavity | OSCC | positive regulation of ATPase activity | 18/7305 | 27/18723 | 3.34e-03 | 1.42e-02 | 18 |
GO:00426927 | Oral cavity | OSCC | muscle cell differentiation | 175/7305 | 384/18723 | 4.79e-03 | 1.92e-02 | 175 |
GO:00434626 | Oral cavity | OSCC | regulation of ATPase activity | 27/7305 | 46/18723 | 5.33e-03 | 2.07e-02 | 27 |
GO:00147067 | Oral cavity | OSCC | striated muscle tissue development | 174/7305 | 384/18723 | 6.45e-03 | 2.40e-02 | 174 |
GO:003103217 | Oral cavity | OSCC | actomyosin structure organization | 93/7305 | 196/18723 | 9.63e-03 | 3.41e-02 | 93 |
GO:0051764 | Oral cavity | OSCC | actin crosslink formation | 10/7305 | 14/18723 | 1.44e-02 | 4.69e-02 | 10 |
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 |
TNNT2 | SNV | Missense_Mutation | | c.768N>T | p.Glu256Asp | p.E256D | P45379 | protein_coding | tolerated(0.15) | benign(0.028) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | rs397516457 | c.311G>A | p.Arg104His | p.R104H | P45379 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BS-A0UM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
TNNT2 | SNV | Missense_Mutation | rs397516484 | c.863N>A | p.Arg288His | p.R288H | P45379 | protein_coding | tolerated(0.31) | possibly_damaging(0.899) | TCGA-D1-A101-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | novel | c.723N>T | p.Glu241Asp | p.E241D | P45379 | protein_coding | tolerated(0.43) | benign(0.101) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | novel | c.647N>G | p.Glu216Gly | p.E216G | P45379 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | novel | c.374N>C | p.Lys125Thr | p.K125T | P45379 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | rs147940106 | c.883N>A | p.Gly295Arg | p.G295R | P45379 | protein_coding | deleterious(0.03) | benign(0.108) | TCGA-DD-A1EK-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
TNNT2 | SNV | Missense_Mutation | novel | c.407G>T | p.Arg136Met | p.R136M | P45379 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-05-4396-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
TNNT2 | SNV | Missense_Mutation | | c.783N>T | p.Gln261His | p.Q261H | P45379 | protein_coding | tolerated(0.55) | benign(0.015) | TCGA-05-5425-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Targeted Molecular therapy | gefitinib | PD |
TNNT2 | SNV | Missense_Mutation | | c.185N>A | p.Ala62Glu | p.A62E | P45379 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-49-AARQ-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |