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.719A>G | p.Asp240Gly | p.D240G | P55199 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-A1-A0SQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | ac | SD |
ELL | SNV | Missense_Mutation | rs538570775 | c.1634N>A | p.Arg545His | p.R545H | P55199 | protein_coding | tolerated(0.21) | possibly_damaging(0.517) | TCGA-A7-A4SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
ELL | SNV | Missense_Mutation | | c.189C>G | p.Ile63Met | p.I63M | P55199 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | novel | c.343N>A | p.Gln115Lys | p.Q115K | P55199 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AC-A8OR-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | | c.1183N>T | p.Asp395Tyr | p.D395Y | P55199 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-C8-A12T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ELL | SNV | Missense_Mutation | | c.956N>G | p.Ser319Trp | p.S319W | P55199 | protein_coding | deleterious(0) | possibly_damaging(0.818) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
ELL | deletion | Frame_Shift_Del | novel | c.1845delN | p.Gln616SerfsTer30 | p.Q616Sfs*30 | P55199 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ELL | SNV | Missense_Mutation | novel | c.1273N>A | p.Leu425Ile | p.L425I | P55199 | protein_coding | tolerated(0.16) | possibly_damaging(0.492) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ELL | SNV | Missense_Mutation | rs759973204 | c.940N>T | p.Arg314Cys | p.R314C | P55199 | protein_coding | deleterious(0.05) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ELL | SNV | Missense_Mutation | novel | c.131G>A | p.Arg44Lys | p.R44K | P55199 | protein_coding | tolerated(0.53) | benign(0.007) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |