GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0098901 | Colorectum | AD | regulation of cardiac muscle cell action potential | 15/3918 | 27/18723 | 8.20e-05 | 1.29e-03 | 15 |
GO:0006809 | Colorectum | AD | nitric oxide biosynthetic process | 30/3918 | 76/18723 | 1.72e-04 | 2.33e-03 | 30 |
GO:0030048 | Colorectum | AD | actin filament-based movement | 44/3918 | 127/18723 | 2.31e-04 | 2.99e-03 | 44 |
GO:0046209 | Colorectum | AD | nitric oxide metabolic process | 31/3918 | 81/18723 | 2.61e-04 | 3.25e-03 | 31 |
GO:2001057 | Colorectum | AD | reactive nitrogen species metabolic process | 31/3918 | 82/18723 | 3.37e-04 | 3.94e-03 | 31 |
GO:0045429 | Colorectum | AD | positive regulation of nitric oxide biosynthetic process | 17/3918 | 40/18723 | 1.66e-03 | 1.38e-02 | 17 |
GO:1904407 | Colorectum | AD | positive regulation of nitric oxide metabolic process | 17/3918 | 41/18723 | 2.29e-03 | 1.79e-02 | 17 |
GO:0099173 | Colorectum | AD | postsynapse organization | 51/3918 | 168/18723 | 2.47e-03 | 1.90e-02 | 51 |
GO:0080164 | Colorectum | AD | regulation of nitric oxide metabolic process | 23/3918 | 64/18723 | 3.99e-03 | 2.80e-02 | 23 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:0098974 | Colorectum | AD | postsynaptic actin cytoskeleton organization | 7/3918 | 12/18723 | 5.09e-03 | 3.38e-02 | 7 |
GO:0045428 | Colorectum | AD | regulation of nitric oxide biosynthetic process | 22/3918 | 62/18723 | 5.72e-03 | 3.64e-02 | 22 |
GO:0051353 | Colorectum | AD | positive regulation of oxidoreductase activity | 21/3918 | 59/18723 | 6.58e-03 | 4.08e-02 | 21 |
GO:0032411 | Colorectum | AD | positive regulation of transporter activity | 37/3918 | 120/18723 | 6.82e-03 | 4.22e-02 | 37 |
GO:00068091 | Colorectum | SER | nitric oxide biosynthetic process | 27/2897 | 76/18723 | 1.38e-05 | 4.28e-04 | 27 |
GO:00462091 | Colorectum | SER | nitric oxide metabolic process | 28/2897 | 81/18723 | 1.73e-05 | 5.15e-04 | 28 |
GO:20010571 | Colorectum | SER | reactive nitrogen species metabolic process | 28/2897 | 82/18723 | 2.24e-05 | 6.43e-04 | 28 |
GO:00300481 | Colorectum | SER | actin filament-based movement | 38/2897 | 127/18723 | 2.80e-05 | 7.56e-04 | 38 |
GO:00991731 | Colorectum | SER | postsynapse organization | 46/2897 | 168/18723 | 5.20e-05 | 1.25e-03 | 46 |
GO:00989011 | Colorectum | SER | regulation of cardiac muscle cell action potential | 12/2897 | 27/18723 | 3.27e-04 | 5.22e-03 | 12 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05014210 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa05022210 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0414530 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
hsa049268 | Esophagus | ESCC | Relaxin signaling pathway | 81/4205 | 129/8465 | 1.72e-03 | 5.09e-03 | 2.61e-03 | 81 |
hsa0501438 | Esophagus | ESCC | Amyotrophic lateral sclerosis | 266/4205 | 364/8465 | 1.31e-20 | 2.20e-18 | 1.13e-18 | 266 |
hsa0502238 | Esophagus | ESCC | Pathways of neurodegeneration - multiple diseases | 318/4205 | 476/8465 | 6.10e-15 | 2.04e-13 | 1.05e-13 | 318 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa04145114 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
hsa0492616 | Esophagus | ESCC | Relaxin signaling pathway | 81/4205 | 129/8465 | 1.72e-03 | 5.09e-03 | 2.61e-03 | 81 |
hsa0501422 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0501022 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0414521 | Liver | HCC | Phagosome | 93/4020 | 152/8465 | 4.27e-04 | 1.88e-03 | 1.05e-03 | 93 |
hsa0033021 | Liver | HCC | Arginine and proline metabolism | 33/4020 | 50/8465 | 6.28e-03 | 1.77e-02 | 9.83e-03 | 33 |
hsa049262 | Liver | HCC | Relaxin signaling pathway | 75/4020 | 129/8465 | 9.33e-03 | 2.46e-02 | 1.37e-02 | 75 |
hsa0501432 | Liver | HCC | Amyotrophic lateral sclerosis | 252/4020 | 364/8465 | 8.85e-18 | 7.41e-16 | 4.12e-16 | 252 |
hsa0501032 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0414531 | Liver | HCC | Phagosome | 93/4020 | 152/8465 | 4.27e-04 | 1.88e-03 | 1.05e-03 | 93 |
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 |
NOS1 | SNV | Missense_Mutation | novel | c.1142N>T | p.Ala381Val | p.A381V | P29475 | protein_coding | deleterious(0.02) | benign(0.089) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
NOS1 | SNV | Missense_Mutation | novel | c.311N>G | p.Thr104Ser | p.T104S | P29475 | protein_coding | tolerated_low_confidence(0.23) | benign(0.101) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | novel | c.1981N>A | p.Glu661Lys | p.E661K | P29475 | protein_coding | deleterious(0) | possibly_damaging(0.579) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | rs766387733 | c.1253N>T | p.Ser418Leu | p.S418L | P29475 | protein_coding | deleterious(0) | possibly_damaging(0.582) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | rs755159260 | c.3103N>T | p.Arg1035Trp | p.R1035W | P29475 | protein_coding | deleterious(0) | possibly_damaging(0.776) | TCGA-AJ-A8CW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | | c.256N>T | p.Gly86Cys | p.G86C | P29475 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.954) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | | c.3631C>T | p.Pro1211Ser | p.P1211S | P29475 | protein_coding | deleterious(0) | possibly_damaging(0.871) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | | c.2842N>A | p.Glu948Lys | p.E948K | P29475 | protein_coding | deleterious(0.04) | probably_damaging(0.995) | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | | c.1388N>T | p.Ala463Val | p.A463V | P29475 | protein_coding | deleterious(0) | benign(0.336) | TCGA-AP-A0LG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1 | SNV | Missense_Mutation | rs772482052 | c.4207N>T | p.Arg1403Cys | p.R1403C | P29475 | protein_coding | deleterious(0.01) | benign(0.316) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |