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:0009152 | Colorectum | AD | purine ribonucleotide biosynthetic process | 64/3918 | 169/18723 | 3.09e-07 | 1.22e-05 | 64 |
GO:1901653 | Colorectum | AD | cellular response to peptide | 114/3918 | 359/18723 | 8.32e-07 | 2.88e-05 | 114 |
GO:0009260 | Colorectum | AD | ribonucleotide biosynthetic process | 66/3918 | 182/18723 | 1.25e-06 | 4.02e-05 | 66 |
GO:0071375 | Colorectum | AD | cellular response to peptide hormone stimulus | 95/3918 | 290/18723 | 1.50e-06 | 4.66e-05 | 95 |
GO:0043434 | Colorectum | AD | response to peptide hormone | 126/3918 | 414/18723 | 2.70e-06 | 7.86e-05 | 126 |
GO:0046390 | Colorectum | AD | ribose phosphate biosynthetic process | 67/3918 | 190/18723 | 3.21e-06 | 9.05e-05 | 67 |
GO:0006164 | Colorectum | AD | purine nucleotide biosynthetic process | 66/3918 | 191/18723 | 8.22e-06 | 1.97e-04 | 66 |
GO:0072522 | Colorectum | AD | purine-containing compound biosynthetic process | 68/3918 | 200/18723 | 1.12e-05 | 2.55e-04 | 68 |
GO:0010975 | Colorectum | AD | regulation of neuron projection development | 129/3918 | 445/18723 | 2.88e-05 | 5.37e-04 | 129 |
GO:1901293 | Colorectum | AD | nucleoside phosphate biosynthetic process | 80/3918 | 256/18723 | 6.31e-05 | 1.05e-03 | 80 |
GO:0009165 | Colorectum | AD | nucleotide biosynthetic process | 79/3918 | 254/18723 | 8.33e-05 | 1.30e-03 | 79 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0031345 | Colorectum | AD | negative regulation of cell projection organization | 58/3918 | 186/18723 | 6.37e-04 | 6.58e-03 | 58 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04714 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa04723 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
hsa04961 | Colorectum | AD | Endocrine and other factor-regulated calcium reabsorption | 24/2092 | 53/8465 | 8.49e-04 | 5.93e-03 | 3.78e-03 | 24 |
hsa04213 | Colorectum | AD | Longevity regulating pathway - multiple species | 27/2092 | 62/8465 | 8.72e-04 | 5.96e-03 | 3.80e-03 | 27 |
hsa04015 | Colorectum | AD | Rap1 signaling pathway | 71/2092 | 210/8465 | 1.72e-03 | 9.68e-03 | 6.18e-03 | 71 |
hsa05163 | Colorectum | AD | Human cytomegalovirus infection | 75/2092 | 225/8465 | 2.00e-03 | 1.10e-02 | 7.01e-03 | 75 |
hsa04912 | Colorectum | AD | GnRH signaling pathway | 35/2092 | 93/8465 | 3.69e-03 | 1.90e-02 | 1.21e-02 | 35 |
hsa05166 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
hsa04962 | Colorectum | AD | Vasopressin-regulated water reabsorption | 19/2092 | 44/8465 | 5.48e-03 | 2.48e-02 | 1.58e-02 | 19 |
hsa04211 | Colorectum | AD | Longevity regulating pathway | 33/2092 | 89/8465 | 6.15e-03 | 2.68e-02 | 1.71e-02 | 33 |
hsa04971 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa04928 | Colorectum | AD | Parathyroid hormone synthesis, secretion and action | 38/2092 | 106/8465 | 6.60e-03 | 2.77e-02 | 1.76e-02 | 38 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa047141 | Colorectum | AD | Thermogenesis | 120/2092 | 232/8465 | 2.76e-19 | 1.16e-17 | 7.37e-18 | 120 |
hsa047231 | Colorectum | AD | Retrograde endocannabinoid signaling | 59/2092 | 148/8465 | 2.94e-05 | 2.73e-04 | 1.74e-04 | 59 |
hsa049611 | Colorectum | AD | Endocrine and other factor-regulated calcium reabsorption | 24/2092 | 53/8465 | 8.49e-04 | 5.93e-03 | 3.78e-03 | 24 |
hsa042131 | Colorectum | AD | Longevity regulating pathway - multiple species | 27/2092 | 62/8465 | 8.72e-04 | 5.96e-03 | 3.80e-03 | 27 |
hsa040151 | Colorectum | AD | Rap1 signaling pathway | 71/2092 | 210/8465 | 1.72e-03 | 9.68e-03 | 6.18e-03 | 71 |
hsa051631 | Colorectum | AD | Human cytomegalovirus infection | 75/2092 | 225/8465 | 2.00e-03 | 1.10e-02 | 7.01e-03 | 75 |
hsa049121 | Colorectum | AD | GnRH signaling pathway | 35/2092 | 93/8465 | 3.69e-03 | 1.90e-02 | 1.21e-02 | 35 |
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 |
ADCY6 | SNV | Missense_Mutation | novel | c.77A>G | p.Lys26Arg | p.K26R | O43306 | protein_coding | tolerated_low_confidence(0.19) | benign(0) | TCGA-AR-A0TS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ADCY6 | SNV | Missense_Mutation | novel | c.2226C>G | p.Ser742Arg | p.S742R | O43306 | protein_coding | deleterious(0.02) | possibly_damaging(0.615) | TCGA-BH-A0HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
ADCY6 | insertion | Frame_Shift_Ins | novel | c.2326_2327insGTACTTCATCGGGAACATGC | p.Met776SerfsTer9 | p.M776Sfs*9 | O43306 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
ADCY6 | insertion | Nonsense_Mutation | novel | c.2224_2225insAAGAAGAAGGATAAAGAAAGACACAACAAATAAGGGACAGGAA | p.Ser742LysfsTer5 | p.S742Kfs*5 | O43306 | protein_coding | | | TCGA-BH-A0HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
ADCY6 | deletion | Frame_Shift_Del | novel | c.1086delN | p.Glu363LysfsTer3 | p.E363Kfs*3 | O43306 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ADCY6 | SNV | Missense_Mutation | | c.2909N>C | p.Leu970Pro | p.L970P | O43306 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DS-A1OA-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
ADCY6 | SNV | Missense_Mutation | novel | c.1417N>A | p.Val473Met | p.V473M | O43306 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADCY6 | SNV | Missense_Mutation | | c.2600N>A | p.Leu867Gln | p.L867Q | O43306 | protein_coding | tolerated(0.08) | benign(0.077) | TCGA-EA-A5FO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADCY6 | SNV | Missense_Mutation | | c.1772C>T | p.Ser591Phe | p.S591F | O43306 | protein_coding | tolerated(0.25) | possibly_damaging(0.652) | TCGA-EK-A2R9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADCY6 | SNV | Missense_Mutation | | c.2017N>A | p.Val673Ile | p.V673I | O43306 | protein_coding | tolerated(0.12) | possibly_damaging(0.656) | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |