GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000915214 | Breast | IDC | purine ribonucleotide biosynthetic process | 34/1434 | 169/18723 | 1.63e-07 | 8.92e-06 | 34 |
GO:004639013 | Breast | IDC | ribose phosphate biosynthetic process | 36/1434 | 190/18723 | 3.40e-07 | 1.73e-05 | 36 |
GO:000926013 | Breast | IDC | ribonucleotide biosynthetic process | 35/1434 | 182/18723 | 3.40e-07 | 1.73e-05 | 35 |
GO:000915014 | Breast | IDC | purine ribonucleotide metabolic process | 55/1434 | 368/18723 | 1.30e-06 | 5.72e-05 | 55 |
GO:001969314 | Breast | IDC | ribose phosphate metabolic process | 58/1434 | 396/18723 | 1.31e-06 | 5.73e-05 | 58 |
GO:000675313 | Breast | IDC | nucleoside phosphate metabolic process | 68/1434 | 497/18723 | 2.01e-06 | 8.23e-05 | 68 |
GO:000911713 | Breast | IDC | nucleotide metabolic process | 67/1434 | 489/18723 | 2.28e-06 | 9.05e-05 | 67 |
GO:000925914 | Breast | IDC | ribonucleotide metabolic process | 56/1434 | 385/18723 | 2.47e-06 | 9.63e-05 | 56 |
GO:000616413 | Breast | IDC | purine nucleotide biosynthetic process | 34/1434 | 191/18723 | 3.11e-06 | 1.15e-04 | 34 |
GO:190129313 | Breast | IDC | nucleoside phosphate biosynthetic process | 41/1434 | 256/18723 | 5.15e-06 | 1.73e-04 | 41 |
GO:000616314 | Breast | IDC | purine nucleotide metabolic process | 56/1434 | 396/18723 | 5.90e-06 | 1.90e-04 | 56 |
GO:007252213 | Breast | IDC | purine-containing compound biosynthetic process | 34/1434 | 200/18723 | 8.79e-06 | 2.50e-04 | 34 |
GO:000916513 | Breast | IDC | nucleotide biosynthetic process | 40/1434 | 254/18723 | 1.01e-05 | 2.81e-04 | 40 |
GO:007252114 | Breast | IDC | purine-containing compound metabolic process | 57/1434 | 416/18723 | 1.28e-05 | 3.31e-04 | 57 |
GO:007233012 | Breast | IDC | monocarboxylic acid biosynthetic process | 29/1434 | 214/18723 | 1.91e-03 | 1.83e-02 | 29 |
GO:001605313 | Breast | IDC | organic acid biosynthetic process | 39/1434 | 316/18723 | 2.13e-03 | 1.99e-02 | 39 |
GO:000663312 | Breast | IDC | fatty acid biosynthetic process | 23/1434 | 163/18723 | 3.21e-03 | 2.70e-02 | 23 |
GO:004639413 | Breast | IDC | carboxylic acid biosynthetic process | 38/1434 | 314/18723 | 3.39e-03 | 2.83e-02 | 38 |
GO:000915223 | Breast | DCIS | purine ribonucleotide biosynthetic process | 34/1390 | 169/18723 | 7.77e-08 | 4.47e-06 | 34 |
GO:004639022 | Breast | DCIS | ribose phosphate biosynthetic process | 36/1390 | 190/18723 | 1.59e-07 | 8.19e-06 | 36 |
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 |
TEC | SNV | Missense_Mutation | | c.1117A>T | p.Met373Leu | p.M373L | P42680 | protein_coding | tolerated(1) | benign(0.037) | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TEC | SNV | Missense_Mutation | rs780984861 | c.1393N>A | p.Val465Ile | p.V465I | P42680 | protein_coding | tolerated(0.23) | benign(0.001) | TCGA-AO-A12A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TEC | SNV | Missense_Mutation | | c.1564T>G | p.Ser522Ala | p.S522A | P42680 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
TEC | SNV | Missense_Mutation | | c.1191C>G | p.Ile397Met | p.I397M | P42680 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TEC | SNV | Missense_Mutation | | c.700N>T | p.Val234Leu | p.V234L | P42680 | protein_coding | tolerated(0.4) | probably_damaging(0.997) | TCGA-C8-A278-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
TEC | SNV | Missense_Mutation | rs761984494 | c.806N>A | p.Gly269Asp | p.G269D | P42680 | protein_coding | deleterious(0) | benign(0.403) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
TEC | insertion | In_Frame_Ins | novel | c.587_588insAAATATAAAATTTAATTTCCCTCAAGGTCAAAATAATCACATTAAACA | p.Gly195_His196insGlnAsnIleLysPheAsnPheProGlnGlyGlnAsnAsnHisIleLys | p.G195_H196insQNIKFNFPQGQNNHIK | P42680 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TEC | deletion | Frame_Shift_Del | novel | c.1348delN | p.Leu450PhefsTer2 | p.L450Ffs*2 | P42680 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
TEC | SNV | Missense_Mutation | rs750190240 | c.700N>A | p.Val234Ile | p.V234I | P42680 | protein_coding | tolerated(0.08) | probably_damaging(0.994) | TCGA-ZJ-AAXB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TEC | SNV | Missense_Mutation | rs539573453 | c.550N>A | p.Val184Ile | p.V184I | P42680 | protein_coding | deleterious(0.05) | benign(0.039) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |