GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0009150 | Colorectum | AD | purine ribonucleotide metabolic process | 142/3918 | 368/18723 | 4.29e-15 | 1.17e-12 | 142 |
GO:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009259 | Colorectum | AD | ribonucleotide metabolic process | 144/3918 | 385/18723 | 5.25e-14 | 1.13e-11 | 144 |
GO:0019693 | Colorectum | AD | ribose phosphate metabolic process | 145/3918 | 396/18723 | 3.01e-13 | 5.71e-11 | 145 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0022613 | Colorectum | AD | ribonucleoprotein complex biogenesis | 151/3918 | 463/18723 | 1.96e-09 | 1.39e-07 | 151 |
GO:0009144 | Colorectum | AD | purine nucleoside triphosphate metabolic process | 43/3918 | 88/18723 | 5.05e-09 | 3.19e-07 | 43 |
GO:0009205 | Colorectum | AD | purine ribonucleoside triphosphate metabolic process | 39/3918 | 82/18723 | 6.58e-08 | 3.40e-06 | 39 |
GO:0009141 | Colorectum | AD | nucleoside triphosphate metabolic process | 48/3918 | 112/18723 | 1.27e-07 | 6.02e-06 | 48 |
GO:0009199 | Colorectum | AD | ribonucleoside triphosphate metabolic process | 40/3918 | 89/18723 | 3.04e-07 | 1.21e-05 | 40 |
GO:0042255 | Colorectum | AD | ribosome assembly | 28/3918 | 61/18723 | 1.08e-05 | 2.47e-04 | 28 |
GO:0042254 | Colorectum | AD | ribosome biogenesis | 84/3918 | 299/18723 | 1.82e-03 | 1.50e-02 | 84 |
GO:0006414 | Colorectum | AD | translational elongation | 21/3918 | 55/18723 | 2.53e-03 | 1.93e-02 | 21 |
GO:00061632 | Colorectum | MSS | purine nucleotide metabolic process | 128/3467 | 396/18723 | 2.04e-11 | 3.02e-09 | 128 |
GO:00091502 | Colorectum | MSS | purine ribonucleotide metabolic process | 121/3467 | 368/18723 | 2.08e-11 | 3.02e-09 | 121 |
GO:00226132 | Colorectum | MSS | ribonucleoprotein complex biogenesis | 144/3467 | 463/18723 | 2.76e-11 | 3.67e-09 | 144 |
GO:00725212 | Colorectum | MSS | purine-containing compound metabolic process | 132/3467 | 416/18723 | 4.13e-11 | 4.86e-09 | 132 |
GO:00092592 | Colorectum | MSS | ribonucleotide metabolic process | 123/3467 | 385/18723 | 1.17e-10 | 1.20e-08 | 123 |
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 |
EFL1 | SNV | Missense_Mutation | rs753483096 | c.2986N>G | p.Leu996Val | p.L996V | Q7Z2Z2 | protein_coding | deleterious(0.02) | probably_damaging(0.936) | TCGA-AC-A3W7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
EFL1 | SNV | Missense_Mutation | | c.365N>A | p.Gly122Glu | p.G122E | Q7Z2Z2 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-BH-A0BP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EFL1 | SNV | Missense_Mutation | | c.1961N>T | p.Thr654Met | p.T654M | Q7Z2Z2 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-E2-A14V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
EFL1 | SNV | Missense_Mutation | | c.1997A>G | p.His666Arg | p.H666R | Q7Z2Z2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EW-A1OY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
EFL1 | insertion | Nonsense_Mutation | novel | c.1785_1786insAAGACATACCCCTAGCCATTAAGGATCCCTGGATCCCC | p.Ala596LysfsTer5 | p.A596Kfs*5 | Q7Z2Z2 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EFL1 | insertion | Frame_Shift_Ins | novel | c.2065_2066insAAATCTTGTTTTTGAGACAGGGTCTCATTCTGTCGCCCCAGCTGGAG | p.Ile689LysfsTer37 | p.I689Kfs*37 | Q7Z2Z2 | protein_coding | | | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
EFL1 | SNV | Missense_Mutation | | c.2845N>T | p.Pro949Ser | p.P949S | Q7Z2Z2 | protein_coding | tolerated(1) | benign(0) | TCGA-FU-A3HY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EFL1 | SNV | Missense_Mutation | | c.115N>T | p.Leu39Phe | p.L39F | Q7Z2Z2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EFL1 | SNV | Missense_Mutation | novel | c.2308N>C | p.Ser770Arg | p.S770R | Q7Z2Z2 | protein_coding | tolerated(0.18) | benign(0.11) | TCGA-MA-AA3W-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EFL1 | SNV | Missense_Mutation | novel | c.2705T>A | p.Phe902Tyr | p.F902Y | Q7Z2Z2 | protein_coding | tolerated(1) | benign(0.034) | TCGA-VS-A94Y-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |