GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00421769 | Breast | Precancer | regulation of protein catabolic process | 47/1080 | 391/18723 | 1.50e-06 | 5.58e-05 | 47 |
GO:00192164 | Breast | Precancer | regulation of lipid metabolic process | 34/1080 | 331/18723 | 8.14e-04 | 9.55e-03 | 34 |
GO:00064147 | Breast | Precancer | translational elongation | 10/1080 | 55/18723 | 1.06e-03 | 1.18e-02 | 10 |
GO:00616846 | Breast | Precancer | chaperone-mediated autophagy | 5/1080 | 16/18723 | 1.62e-03 | 1.64e-02 | 5 |
GO:00336749 | Breast | Precancer | positive regulation of kinase activity | 42/1080 | 467/18723 | 2.94e-03 | 2.54e-02 | 42 |
GO:004217614 | Breast | IDC | regulation of protein catabolic process | 63/1434 | 391/18723 | 1.32e-08 | 9.61e-07 | 63 |
GO:001921612 | Breast | IDC | regulation of lipid metabolic process | 45/1434 | 331/18723 | 1.21e-04 | 2.24e-03 | 45 |
GO:006168411 | Breast | IDC | chaperone-mediated autophagy | 6/1434 | 16/18723 | 8.18e-04 | 9.64e-03 | 6 |
GO:004217624 | Breast | DCIS | regulation of protein catabolic process | 62/1390 | 391/18723 | 9.98e-09 | 7.53e-07 | 62 |
GO:001921621 | Breast | DCIS | regulation of lipid metabolic process | 43/1390 | 331/18723 | 2.37e-04 | 3.71e-03 | 43 |
GO:006168421 | Breast | DCIS | chaperone-mediated autophagy | 6/1390 | 16/18723 | 6.93e-04 | 8.45e-03 | 6 |
GO:000641413 | Breast | DCIS | translational elongation | 10/1390 | 55/18723 | 6.66e-03 | 4.62e-02 | 10 |
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 |
EEF1A2 | SNV | Missense_Mutation | | c.1012N>T | p.Ala338Ser | p.A338S | Q05639 | protein_coding | tolerated_low_confidence(0.11) | benign(0.022) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
EEF1A2 | SNV | Missense_Mutation | | c.30C>G | p.Ile10Met | p.I10M | Q05639 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.665) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EEF1A2 | SNV | Missense_Mutation | novel | c.917N>T | p.Asp306Val | p.D306V | Q05639 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.976) | TCGA-AC-A3W5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
EEF1A2 | SNV | Missense_Mutation | novel | c.1196N>A | p.Ala399Glu | p.A399E | Q05639 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.993) | TCGA-BH-A0BW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | CR |
EEF1A2 | SNV | Missense_Mutation | novel | c.718C>T | p.Arg240Cys | p.R240C | Q05639 | protein_coding | tolerated_low_confidence(0.08) | benign(0.007) | TCGA-OL-A5RX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EEF1A2 | SNV | Missense_Mutation | rs778585590 | c.667N>A | p.Ala223Thr | p.A223T | Q05639 | protein_coding | tolerated_low_confidence(0.05) | benign(0.079) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EEF1A2 | SNV | Missense_Mutation | novel | c.662N>A | p.Gly221Asp | p.G221D | Q05639 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.777) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EEF1A2 | SNV | Missense_Mutation | | c.901G>A | p.Glu301Lys | p.E301K | Q05639 | protein_coding | tolerated_low_confidence(0.06) | benign(0.117) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EEF1A2 | SNV | Missense_Mutation | | c.391N>A | p.Gly131Arg | p.G131R | Q05639 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.5) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EEF1A2 | SNV | Missense_Mutation | | c.454G>A | p.Val152Met | p.V152M | Q05639 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.902) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |