GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004854514 | Breast | IDC | response to steroid hormone | 70/1434 | 339/18723 | 1.34e-14 | 4.23e-12 | 70 |
GO:000683913 | Breast | IDC | mitochondrial transport | 51/1434 | 254/18723 | 1.54e-10 | 1.83e-08 | 51 |
GO:003164714 | Breast | IDC | regulation of protein stability | 50/1434 | 298/18723 | 1.14e-07 | 6.57e-06 | 50 |
GO:000756813 | Breast | IDC | aging | 52/1434 | 339/18723 | 1.14e-06 | 5.10e-05 | 52 |
GO:005123513 | Breast | IDC | maintenance of location | 48/1434 | 327/18723 | 9.90e-06 | 2.77e-04 | 48 |
GO:000941013 | Breast | IDC | response to xenobiotic stimulus | 62/1434 | 462/18723 | 1.05e-05 | 2.88e-04 | 62 |
GO:190165414 | Breast | IDC | response to ketone | 33/1434 | 194/18723 | 1.17e-05 | 3.13e-04 | 33 |
GO:003428414 | Breast | IDC | response to monosaccharide | 36/1434 | 225/18723 | 1.94e-05 | 4.83e-04 | 36 |
GO:005159114 | Breast | IDC | response to cAMP | 20/1434 | 93/18723 | 2.00e-05 | 4.91e-04 | 20 |
GO:003166714 | Breast | IDC | response to nutrient levels | 62/1434 | 474/18723 | 2.33e-05 | 5.57e-04 | 62 |
GO:000974314 | Breast | IDC | response to carbohydrate | 38/1434 | 253/18723 | 4.87e-05 | 1.07e-03 | 38 |
GO:004668312 | Breast | IDC | response to organophosphorus | 24/1434 | 131/18723 | 5.22e-05 | 1.12e-03 | 24 |
GO:007149614 | Breast | IDC | cellular response to external stimulus | 45/1434 | 320/18723 | 5.40e-05 | 1.15e-03 | 45 |
GO:007058513 | Breast | IDC | protein localization to mitochondrion | 23/1434 | 125/18723 | 6.92e-05 | 1.40e-03 | 23 |
GO:00434348 | Breast | IDC | response to peptide hormone | 54/1434 | 414/18723 | 8.25e-05 | 1.61e-03 | 54 |
GO:007265513 | Breast | IDC | establishment of protein localization to mitochondrion | 22/1434 | 120/18723 | 1.04e-04 | 1.97e-03 | 22 |
GO:001921612 | Breast | IDC | regulation of lipid metabolic process | 45/1434 | 331/18723 | 1.21e-04 | 2.24e-03 | 45 |
GO:000974613 | Breast | IDC | response to hexose | 33/1434 | 219/18723 | 1.39e-04 | 2.49e-03 | 33 |
GO:000660514 | Breast | IDC | protein targeting | 43/1434 | 314/18723 | 1.44e-04 | 2.53e-03 | 43 |
GO:00303244 | Breast | IDC | lung development | 28/1434 | 177/18723 | 1.90e-04 | 3.15e-03 | 28 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
EBF1 | CFIB | Colorectum | ADJ | FBN1,DLC1,BCKDHB, etc. | 4.28e-01 | |
EBF1 | CFIB | Colorectum | Healthy | FBN1,DLC1,BCKDHB, etc. | 1.84e-01 | |
EBF1 | MALTB | Endometrium | ADJ | BANK1,PLEKHG1,TNFRSF13C, etc. | 6.48e-02 | |
EBF1 | MALTB | Endometrium | AEH | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.87e-01 | |
EBF1 | MALTB | Endometrium | EEC | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.49e-01 | |
EBF1 | MALTB | Endometrium | Healthy | BANK1,PLEKHG1,TNFRSF13C, etc. | 1.12e-01 | |
EBF1 | PERI | Esophagus | ESCC | CD248,FBN1,OLFML2A, etc. | 2.59e-01 | |
EBF1 | BN | Lung | AAH | BANK1,MS4A1,OSBPL10, etc. | 1.28e-01 | |
EBF1 | BN | Lung | MIAC | BANK1,MEF2C,AFF3, etc. | 2.51e-01 | |
EBF1 | MALTB | Lung | MIAC | BANK1,MEF2C,AFF3, etc. | 1.43e-01 | |
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 |
EBF1 | SNV | Missense_Mutation | | c.1529N>G | p.Ala510Gly | p.A510G | Q9UH73 | protein_coding | tolerated_low_confidence(0.11) | benign(0.066) | TCGA-A2-A0YT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | arimidex | SD |
EBF1 | SNV | Missense_Mutation | | c.1211N>T | p.Ala404Val | p.A404V | Q9UH73 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.948) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
EBF1 | SNV | Missense_Mutation | novel | c.1706N>A | p.Pro569His | p.P569H | Q9UH73 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.95) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | rs556574598 | c.1397N>T | p.Ser466Leu | p.S466L | Q9UH73 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.52) | TCGA-BH-A28O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
EBF1 | SNV | Missense_Mutation | rs556574598 | c.1397N>T | p.Ser466Leu | p.S466L | Q9UH73 | protein_coding | deleterious_low_confidence(0.03) | possibly_damaging(0.52) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
EBF1 | insertion | Frame_Shift_Ins | novel | c.801_802insTGTT | p.Ser268CysfsTer2 | p.S268Cfs*2 | Q9UH73 | protein_coding | | | TCGA-AO-A0JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophospamide | SD |
EBF1 | insertion | Frame_Shift_Ins | novel | c.800_801insTAGCAGTTGGGTACCTGGATGTAGGACTTTAAATTGGG | p.Pro269SerfsTer25 | p.P269Sfs*25 | Q9UH73 | protein_coding | | | TCGA-AO-A0JJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophospamide | SD |
EBF1 | SNV | Missense_Mutation | rs181351521 | c.1501G>A | p.Gly501Ser | p.G501S | Q9UH73 | protein_coding | tolerated_low_confidence(0.16) | benign(0.009) | TCGA-3L-AA1B-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | | c.802N>T | p.Ser268Cys | p.S268C | Q9UH73 | protein_coding | tolerated(0.17) | benign(0.228) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EBF1 | SNV | Missense_Mutation | | c.1055N>A | p.Ile352Asn | p.I352N | Q9UH73 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |