GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005123526 | Skin | AK | maintenance of location | 56/1910 | 327/18723 | 7.44e-05 | 1.06e-03 | 56 |
GO:00072198 | Skin | AK | Notch signaling pathway | 34/1910 | 172/18723 | 1.20e-04 | 1.50e-03 | 34 |
GO:000660526 | Skin | AK | protein targeting | 53/1910 | 314/18723 | 1.67e-04 | 1.94e-03 | 53 |
GO:19028959 | Skin | AK | positive regulation of pri-miRNA transcription by RNA polymerase II | 13/1910 | 42/18723 | 1.85e-04 | 2.12e-03 | 13 |
GO:007058524 | Skin | AK | protein localization to mitochondrion | 26/1910 | 125/18723 | 3.17e-04 | 3.24e-03 | 26 |
GO:003166727 | Skin | AK | response to nutrient levels | 72/1910 | 474/18723 | 3.74e-04 | 3.63e-03 | 72 |
GO:00085936 | Skin | AK | regulation of Notch signaling pathway | 21/1910 | 95/18723 | 4.96e-04 | 4.58e-03 | 21 |
GO:000698417 | Skin | AK | ER-nucleus signaling pathway | 13/1910 | 46/18723 | 5.02e-04 | 4.61e-03 | 13 |
GO:003166924 | Skin | AK | cellular response to nutrient levels | 38/1910 | 215/18723 | 5.37e-04 | 4.86e-03 | 38 |
GO:001082120 | Skin | AK | regulation of mitochondrion organization | 28/1910 | 144/18723 | 6.05e-04 | 5.32e-03 | 28 |
GO:000683926 | Skin | AK | mitochondrial transport | 43/1910 | 254/18723 | 6.18e-04 | 5.42e-03 | 43 |
GO:001050618 | Skin | AK | regulation of autophagy | 51/1910 | 317/18723 | 6.97e-04 | 5.96e-03 | 51 |
GO:190374710 | Skin | AK | regulation of establishment of protein localization to mitochondrion | 13/1910 | 50/18723 | 1.19e-03 | 9.11e-03 | 13 |
GO:000926720 | Skin | AK | cellular response to starvation | 28/1910 | 156/18723 | 2.15e-03 | 1.43e-02 | 28 |
GO:007265524 | Skin | AK | establishment of protein localization to mitochondrion | 23/1910 | 120/18723 | 2.17e-03 | 1.44e-02 | 23 |
GO:190300810 | Skin | AK | organelle disassembly | 22/1910 | 114/18723 | 2.44e-03 | 1.59e-02 | 22 |
GO:004259420 | Skin | AK | response to starvation | 32/1910 | 197/18723 | 5.47e-03 | 3.02e-02 | 32 |
GO:000042218 | Skin | AK | autophagy of mitochondrion | 16/1910 | 81/18723 | 7.13e-03 | 3.64e-02 | 16 |
GO:006172618 | Skin | AK | mitochondrion disassembly | 16/1910 | 81/18723 | 7.13e-03 | 3.64e-02 | 16 |
GO:19037499 | Skin | AK | positive regulation of establishment of protein localization to mitochondrion | 9/1910 | 36/18723 | 8.65e-03 | 4.28e-02 | 9 |
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 |