GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0045333 | Colorectum | AD | cellular respiration | 119/3918 | 230/18723 | 3.21e-25 | 4.02e-22 | 119 |
GO:0015980 | Colorectum | AD | energy derivation by oxidation of organic compounds | 143/3918 | 318/18723 | 2.78e-22 | 2.49e-19 | 143 |
GO:0042176 | Colorectum | AD | regulation of protein catabolic process | 160/3918 | 391/18723 | 1.06e-19 | 7.34e-17 | 160 |
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:0009895 | Colorectum | AD | negative regulation of catabolic process | 124/3918 | 320/18723 | 1.66e-13 | 3.35e-11 | 124 |
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:0042177 | Colorectum | AD | negative regulation of protein catabolic process | 55/3918 | 121/18723 | 1.19e-09 | 8.85e-08 | 55 |
GO:0044282 | Colorectum | AD | small molecule catabolic process | 118/3918 | 376/18723 | 1.05e-06 | 3.55e-05 | 118 |
GO:0007623 | Colorectum | AD | circadian rhythm | 72/3918 | 210/18723 | 4.50e-06 | 1.21e-04 | 72 |
GO:0006164 | Colorectum | AD | purine nucleotide biosynthetic process | 66/3918 | 191/18723 | 8.22e-06 | 1.97e-04 | 66 |
GO:0043467 | Colorectum | AD | regulation of generation of precursor metabolites and energy | 49/3918 | 130/18723 | 8.33e-06 | 1.99e-04 | 49 |
GO:0048511 | Colorectum | AD | rhythmic process | 94/3918 | 298/18723 | 1.00e-05 | 2.34e-04 | 94 |
GO:0072522 | Colorectum | AD | purine-containing compound biosynthetic process | 68/3918 | 200/18723 | 1.12e-05 | 2.55e-04 | 68 |
GO:1901293 | Colorectum | AD | nucleoside phosphate biosynthetic process | 80/3918 | 256/18723 | 6.31e-05 | 1.05e-03 | 80 |
GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
GO:0009165 | Colorectum | AD | nucleotide biosynthetic process | 79/3918 | 254/18723 | 8.33e-05 | 1.30e-03 | 79 |
GO:0009306 | Colorectum | AD | protein secretion | 105/3918 | 359/18723 | 1.05e-04 | 1.57e-03 | 105 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050144 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa040664 | Colorectum | MSS | HIF-1 signaling pathway | 39/1875 | 109/8465 | 7.61e-04 | 5.00e-03 | 3.06e-03 | 39 |
hsa04926 | Colorectum | MSS | Relaxin signaling pathway | 40/1875 | 129/8465 | 1.18e-02 | 3.99e-02 | 2.44e-02 | 40 |
hsa05222 | Colorectum | MSS | Small cell lung cancer | 30/1875 | 92/8465 | 1.31e-02 | 4.30e-02 | 2.64e-02 | 30 |
hsa050105 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050145 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa040665 | Colorectum | MSS | HIF-1 signaling pathway | 39/1875 | 109/8465 | 7.61e-04 | 5.00e-03 | 3.06e-03 | 39 |
hsa049261 | Colorectum | MSS | Relaxin signaling pathway | 40/1875 | 129/8465 | 1.18e-02 | 3.99e-02 | 2.44e-02 | 40 |
hsa052221 | Colorectum | MSS | Small cell lung cancer | 30/1875 | 92/8465 | 1.31e-02 | 4.30e-02 | 2.64e-02 | 30 |
hsa050108 | Colorectum | FAP | Alzheimer disease | 105/1404 | 384/8465 | 3.74e-08 | 1.04e-06 | 6.33e-07 | 105 |
hsa040666 | Colorectum | FAP | HIF-1 signaling pathway | 38/1404 | 109/8465 | 2.43e-06 | 4.28e-05 | 2.60e-05 | 38 |
hsa050228 | Colorectum | FAP | Pathways of neurodegeneration - multiple diseases | 117/1404 | 476/8465 | 2.81e-06 | 4.47e-05 | 2.72e-05 | 117 |
hsa050148 | Colorectum | FAP | Amyotrophic lateral sclerosis | 91/1404 | 364/8465 | 1.84e-05 | 2.36e-04 | 1.44e-04 | 91 |
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 |
NOS2 | insertion | Frame_Shift_Ins | novel | c.1392_1393insTGCATTTCCACGGAGAGTGGCACTGAAGGAAGTGGCTTCCA | p.Val465CysfsTer31 | p.V465Cfs*31 | P35228 | protein_coding | | | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS2 | insertion | Frame_Shift_Ins | novel | c.2193_2194insTGTCCAGGAGAAAGTGAGA | p.Val732CysfsTer35 | p.V732Cfs*35 | P35228 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NOS2 | insertion | Nonsense_Mutation | novel | c.2321_2322insATTATAAGAGAGCTTAAAAATAAATGTTAGAAAT | p.Val775LeufsTer2 | p.V775Lfs*2 | P35228 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS2 | insertion | Frame_Shift_Ins | novel | c.1417_1418insGCGCCTGCCTGTCTGTCTGTCCCCACAGAGCTGTGCTCTT | p.Thr473SerfsTer115 | p.T473Sfs*115 | P35228 | protein_coding | | | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NOS2 | insertion | In_Frame_Ins | novel | c.1565_1566insATTCAG | p.Val522_Leu523insPheArg | p.V522_L523insFR | P35228 | protein_coding | | | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
NOS2 | insertion | Nonsense_Mutation | novel | c.3044_3045insTGAAGCATTACACACACAAGCTCCACTGTGAGCCC | p.Cys1016GlufsTer10 | p.C1016Efs*10 | P35228 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
NOS2 | SNV | Missense_Mutation | rs201644791 | c.874N>A | p.Asp292Asn | p.D292N | P35228 | protein_coding | tolerated(0.12) | benign(0.419) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NOS2 | SNV | Missense_Mutation | novel | c.620N>T | p.Ser207Phe | p.S207F | P35228 | protein_coding | deleterious(0) | probably_damaging(0.941) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NOS2 | SNV | Missense_Mutation | novel | c.2746N>T | p.His916Tyr | p.H916Y | P35228 | protein_coding | tolerated(0.75) | benign(0.079) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
NOS2 | SNV | Missense_Mutation | rs777393355 | c.1510G>A | p.Glu504Lys | p.E504K | P35228 | protein_coding | tolerated(0.73) | benign(0.003) | TCGA-DG-A2KL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |