GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000042219 | Skin | cSCC | autophagy of mitochondrion | 44/4864 | 81/18723 | 5.28e-08 | 1.36e-06 | 44 |
GO:006172619 | Skin | cSCC | mitochondrion disassembly | 44/4864 | 81/18723 | 5.28e-08 | 1.36e-06 | 44 |
GO:0010821111 | Skin | cSCC | regulation of mitochondrion organization | 67/4864 | 144/18723 | 7.99e-08 | 1.96e-06 | 67 |
GO:000698423 | Skin | cSCC | ER-nucleus signaling pathway | 29/4864 | 46/18723 | 1.33e-07 | 3.05e-06 | 29 |
GO:007149628 | Skin | cSCC | cellular response to external stimulus | 125/4864 | 320/18723 | 1.63e-07 | 3.65e-06 | 125 |
GO:19035339 | Skin | cSCC | regulation of protein targeting | 39/4864 | 81/18723 | 1.46e-05 | 1.81e-04 | 39 |
GO:003166825 | Skin | cSCC | cellular response to extracellular stimulus | 94/4864 | 246/18723 | 1.52e-05 | 1.87e-04 | 94 |
GO:190374716 | Skin | cSCC | regulation of establishment of protein localization to mitochondrion | 27/4864 | 50/18723 | 2.26e-05 | 2.62e-04 | 27 |
GO:000926722 | Skin | cSCC | cellular response to starvation | 64/4864 | 156/18723 | 2.79e-05 | 3.12e-04 | 64 |
GO:0042594110 | Skin | cSCC | response to starvation | 77/4864 | 197/18723 | 3.52e-05 | 3.82e-04 | 77 |
GO:19032149 | Skin | cSCC | regulation of protein targeting to mitochondrion | 24/4864 | 44/18723 | 5.16e-05 | 5.28e-04 | 24 |
GO:003166728 | Skin | cSCC | response to nutrient levels | 160/4864 | 474/18723 | 8.44e-05 | 8.02e-04 | 160 |
GO:003166925 | Skin | cSCC | cellular response to nutrient levels | 80/4864 | 215/18723 | 1.76e-04 | 1.50e-03 | 80 |
GO:190374915 | Skin | cSCC | positive regulation of establishment of protein localization to mitochondrion | 19/4864 | 36/18723 | 5.40e-04 | 4.00e-03 | 19 |
GO:19039557 | Skin | cSCC | positive regulation of protein targeting to mitochondrion | 17/4864 | 32/18723 | 9.55e-04 | 6.47e-03 | 17 |
GO:190314615 | Skin | cSCC | regulation of autophagy of mitochondrion | 17/4864 | 33/18723 | 1.50e-03 | 9.36e-03 | 17 |
GO:19026525 | Skin | cSCC | secondary alcohol metabolic process | 53/4864 | 147/18723 | 4.33e-03 | 2.27e-02 | 53 |
GO:005123527 | Skin | cSCC | maintenance of location | 106/4864 | 327/18723 | 5.17e-03 | 2.61e-02 | 106 |
GO:003293313 | Skin | cSCC | SREBP signaling pathway | 9/4864 | 15/18723 | 5.52e-03 | 2.73e-02 | 9 |
GO:000721922 | Skin | cSCC | Notch signaling pathway | 60/4864 | 172/18723 | 5.82e-03 | 2.87e-02 | 60 |
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 |
EBF2 | SNV | Missense_Mutation | | c.1373C>T | p.Pro458Leu | p.P458L | Q9HAK2 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.593) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
EBF2 | SNV | Missense_Mutation | novel | c.202N>T | p.His68Tyr | p.H68Y | Q9HAK2 | protein_coding | deleterious(0) | probably_damaging(0.911) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
EBF2 | SNV | Missense_Mutation | | c.469N>A | p.Glu157Lys | p.E157K | Q9HAK2 | protein_coding | deleterious(0) | possibly_damaging(0.6) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EBF2 | SNV | Missense_Mutation | | c.1468N>G | p.Leu490Val | p.L490V | Q9HAK2 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.816) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
EBF2 | SNV | Missense_Mutation | | c.421N>A | p.Glu141Lys | p.E141K | Q9HAK2 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
EBF2 | SNV | Missense_Mutation | novel | c.1204N>G | p.Leu402Val | p.L402V | Q9HAK2 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.911) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
EBF2 | SNV | Missense_Mutation | novel | c.599C>G | p.Thr200Arg | p.T200R | Q9HAK2 | protein_coding | deleterious(0) | benign(0.142) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
EBF2 | SNV | Missense_Mutation | novel | c.725N>C | p.Arg242Thr | p.R242T | Q9HAK2 | protein_coding | deleterious(0) | possibly_damaging(0.491) | TCGA-EW-A423-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
EBF2 | SNV | Missense_Mutation | novel | c.8N>A | p.Gly3Glu | p.G3E | Q9HAK2 | protein_coding | deleterious_low_confidence(0.04) | benign(0.018) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EBF2 | SNV | Missense_Mutation | | c.1138C>G | p.Leu380Val | p.L380V | Q9HAK2 | protein_coding | tolerated(0.06) | benign(0.148) | TCGA-VS-A954-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |