Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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 |
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 |
NOS1AP | SNV | Missense_Mutation | | c.1423N>A | p.Glu475Lys | p.E475K | O75052 | protein_coding | deleterious_low_confidence(0.01) | benign(0.156) | TCGA-A2-A0EM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NOS1AP | SNV | Missense_Mutation | novel | c.811C>T | p.Leu271Phe | p.L271F | O75052 | protein_coding | tolerated(0.05) | probably_damaging(0.96) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS1AP | SNV | Missense_Mutation | novel | c.826T>C | p.Ser276Pro | p.S276P | O75052 | protein_coding | tolerated(0.28) | benign(0) | TCGA-AN-A04D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOS1AP | SNV | Missense_Mutation | | c.364N>T | p.Asp122Tyr | p.D122Y | O75052 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A13Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
NOS1AP | SNV | Missense_Mutation | | c.314A>T | p.Lys105Met | p.K105M | O75052 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOS1AP | insertion | Nonsense_Mutation | novel | c.544_545insACATCACTCATTTCTGTCCTTGAAAGAAAGCAAAA | p.Gly182AspfsTer8 | p.G182Dfs*8 | O75052 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
NOS1AP | insertion | Frame_Shift_Ins | novel | c.852_853insTTAAGCAGTATGCTGTGCCTGTGGTTAAATATTA | p.Thr285LeufsTer51 | p.T285Lfs*51 | O75052 | protein_coding | | | TCGA-BH-A0DS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide | SD |
NOS1AP | deletion | Frame_Shift_Del | novel | c.1268delA | p.Asp423AlafsTer4 | p.D423Afs*4 | O75052 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
NOS1AP | SNV | Missense_Mutation | novel | c.534G>C | p.Gln178His | p.Q178H | O75052 | protein_coding | deleterious(0.01) | probably_damaging(0.922) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
NOS1AP | SNV | Missense_Mutation | novel | c.970N>C | p.Glu324Gln | p.E324Q | O75052 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |