GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00063684 | Cervix | CC | transcription elongation from RNA polymerase II promoter | 17/2311 | 69/18723 | 3.65e-03 | 2.33e-02 | 17 |
GO:00063545 | Cervix | CC | DNA-templated transcription, elongation | 20/2311 | 91/18723 | 6.88e-03 | 3.74e-02 | 20 |
GO:0006354 | Colorectum | AD | DNA-templated transcription, elongation | 31/3918 | 91/18723 | 2.46e-03 | 1.90e-02 | 31 |
GO:0006368 | Colorectum | AD | transcription elongation from RNA polymerase II promoter | 24/3918 | 69/18723 | 5.35e-03 | 3.52e-02 | 24 |
GO:00063541 | Colorectum | MSS | DNA-templated transcription, elongation | 29/3467 | 91/18723 | 1.52e-03 | 1.39e-02 | 29 |
GO:00063681 | Colorectum | MSS | transcription elongation from RNA polymerase II promoter | 22/3467 | 69/18723 | 5.31e-03 | 3.62e-02 | 22 |
GO:00063682 | Colorectum | FAP | transcription elongation from RNA polymerase II promoter | 20/2622 | 69/18723 | 9.25e-04 | 9.26e-03 | 20 |
GO:00063542 | Colorectum | FAP | DNA-templated transcription, elongation | 24/2622 | 91/18723 | 1.32e-03 | 1.22e-02 | 24 |
GO:00063543 | Colorectum | CRC | DNA-templated transcription, elongation | 19/2078 | 91/18723 | 4.74e-03 | 3.67e-02 | 19 |
GO:00514039 | Endometrium | AEH | stress-activated MAPK cascade | 50/2100 | 239/18723 | 9.33e-06 | 2.18e-04 | 50 |
GO:00310989 | Endometrium | AEH | stress-activated protein kinase signaling cascade | 51/2100 | 247/18723 | 1.12e-05 | 2.52e-04 | 51 |
GO:00328728 | Endometrium | AEH | regulation of stress-activated MAPK cascade | 42/2100 | 192/18723 | 1.53e-05 | 3.23e-04 | 42 |
GO:00380665 | Endometrium | AEH | p38MAPK cascade | 18/2100 | 55/18723 | 1.77e-05 | 3.65e-04 | 18 |
GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
GO:00703028 | Endometrium | AEH | regulation of stress-activated protein kinase signaling cascade | 42/2100 | 195/18723 | 2.27e-05 | 4.35e-04 | 42 |
GO:19007443 | Endometrium | AEH | regulation of p38MAPK cascade | 15/2100 | 47/18723 | 1.21e-04 | 1.67e-03 | 15 |
GO:19007452 | Endometrium | AEH | positive regulation of p38MAPK cascade | 10/2100 | 32/18723 | 1.94e-03 | 1.52e-02 | 10 |
GO:00328743 | Endometrium | AEH | positive regulation of stress-activated MAPK cascade | 25/2100 | 126/18723 | 3.18e-03 | 2.24e-02 | 25 |
GO:00703044 | Endometrium | AEH | positive regulation of stress-activated protein kinase signaling cascade | 25/2100 | 128/18723 | 3.95e-03 | 2.65e-02 | 25 |
GO:003806612 | Endometrium | EEC | p38MAPK cascade | 21/2168 | 55/18723 | 3.30e-07 | 1.33e-05 | 21 |
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 |
ELL | SNV | Missense_Mutation | | c.167N>G | p.Phe56Cys | p.F56C | P55199 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | | c.16G>A | p.Glu6Lys | p.E6K | P55199 | protein_coding | deleterious(0) | possibly_damaging(0.685) | TCGA-B5-A11R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ELL | SNV | Missense_Mutation | | c.749C>T | p.Ala250Val | p.A250V | P55199 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-BG-A0M4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
ELL | SNV | Missense_Mutation | rs780854421 | c.721N>A | p.Ala241Thr | p.A241T | P55199 | protein_coding | tolerated(0.3) | benign(0.001) | TCGA-BG-A2L7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
ELL | SNV | Missense_Mutation | | c.1672C>T | p.Arg558Trp | p.R558W | P55199 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-BS-A0U8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
ELL | SNV | Missense_Mutation | | c.856C>T | p.Arg286Trp | p.R286W | P55199 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | rs575679241 | c.865N>A | p.Val289Ile | p.V289I | P55199 | protein_coding | tolerated(0.36) | benign(0.007) | TCGA-D1-A1NS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | novel | c.965A>G | p.Gln322Arg | p.Q322R | P55199 | protein_coding | deleterious(0.01) | probably_damaging(0.968) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | | c.1286N>C | p.Leu429Pro | p.L429P | P55199 | protein_coding | tolerated(0.34) | benign(0) | TCGA-EY-A1H0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | SD |
ELL | SNV | Missense_Mutation | | c.1508N>T | p.Thr503Met | p.T503M | P55199 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |