GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00063685 | Prostate | BPH | transcription elongation from RNA polymerase II promoter | 24/3107 | 69/18723 | 1.85e-04 | 1.55e-03 | 24 |
GO:000635412 | Prostate | Tumor | DNA-templated transcription, elongation | 31/3246 | 91/18723 | 8.58e-05 | 8.53e-04 | 31 |
GO:000636812 | Prostate | Tumor | transcription elongation from RNA polymerase II promoter | 25/3246 | 69/18723 | 1.33e-04 | 1.23e-03 | 25 |
GO:009719328 | Skin | AK | intrinsic apoptotic signaling pathway | 82/1910 | 288/18723 | 2.01e-18 | 2.97e-15 | 82 |
GO:200123328 | Skin | AK | regulation of apoptotic signaling pathway | 91/1910 | 356/18723 | 5.72e-17 | 4.84e-14 | 91 |
GO:200124228 | Skin | AK | regulation of intrinsic apoptotic signaling pathway | 54/1910 | 164/18723 | 1.64e-15 | 7.48e-13 | 54 |
GO:200123428 | Skin | AK | negative regulation of apoptotic signaling pathway | 55/1910 | 224/18723 | 4.38e-10 | 5.24e-08 | 55 |
GO:200124326 | Skin | AK | negative regulation of intrinsic apoptotic signaling pathway | 31/1910 | 98/18723 | 4.97e-09 | 3.63e-07 | 31 |
GO:000632518 | Skin | AK | chromatin organization | 73/1910 | 409/18723 | 1.40e-06 | 4.26e-05 | 73 |
GO:00063384 | Skin | AK | chromatin remodeling | 51/1910 | 255/18723 | 1.95e-06 | 5.73e-05 | 51 |
GO:00063549 | Skin | AK | DNA-templated transcription, elongation | 25/1910 | 91/18723 | 2.82e-06 | 7.60e-05 | 25 |
GO:00063688 | Skin | AK | transcription elongation from RNA polymerase II promoter | 20/1910 | 69/18723 | 1.14e-05 | 2.37e-04 | 20 |
GO:19908239 | Skin | AK | response to leukemia inhibitory factor | 23/1910 | 95/18723 | 6.35e-05 | 9.31e-04 | 23 |
GO:19908309 | Skin | AK | cellular response to leukemia inhibitory factor | 22/1910 | 94/18723 | 1.55e-04 | 1.84e-03 | 22 |
GO:000165510 | Skin | AK | urogenital system development | 54/1910 | 338/18723 | 5.86e-04 | 5.20e-03 | 54 |
GO:0071103 | Skin | AK | DNA conformation change | 47/1910 | 290/18723 | 9.43e-04 | 7.61e-03 | 47 |
GO:00434144 | Skin | AK | macromolecule methylation | 48/1910 | 316/18723 | 3.28e-03 | 2.01e-02 | 48 |
GO:0071824 | Skin | AK | protein-DNA complex subunit organization | 38/1910 | 241/18723 | 4.43e-03 | 2.57e-02 | 38 |
GO:00400296 | Skin | AK | regulation of gene expression, epigenetic | 19/1910 | 105/18723 | 9.43e-03 | 4.60e-02 | 19 |
GO:009719329 | Skin | cSCC | intrinsic apoptotic signaling pathway | 150/4864 | 288/18723 | 1.76e-21 | 3.34e-19 | 150 |
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 |