Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00026837 | Cervix | CC | negative regulation of immune system process | 94/2311 | 434/18723 | 2.63e-08 | 1.87e-06 | 94 |
GO:00975298 | Cervix | CC | myeloid leukocyte migration | 56/2311 | 220/18723 | 7.21e-08 | 4.15e-06 | 56 |
GO:00447725 | Cervix | CC | mitotic cell cycle phase transition | 89/2311 | 424/18723 | 2.70e-07 | 1.12e-05 | 89 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:00310988 | Cervix | CC | stress-activated protein kinase signaling cascade | 58/2311 | 247/18723 | 8.02e-07 | 2.89e-05 | 58 |
GO:00509007 | Cervix | CC | leukocyte migration | 78/2311 | 369/18723 | 1.09e-06 | 3.80e-05 | 78 |
GO:00026857 | Cervix | CC | regulation of leukocyte migration | 50/2311 | 210/18723 | 2.95e-06 | 8.31e-05 | 50 |
GO:00514038 | Cervix | CC | stress-activated MAPK cascade | 55/2311 | 239/18723 | 2.96e-06 | 8.31e-05 | 55 |
GO:00454445 | Cervix | CC | fat cell differentiation | 53/2311 | 229/18723 | 3.72e-06 | 9.75e-05 | 53 |
GO:20000453 | Cervix | CC | regulation of G1/S transition of mitotic cell cycle | 37/2311 | 142/18723 | 6.33e-06 | 1.53e-04 | 37 |
GO:00457876 | Cervix | CC | positive regulation of cell cycle | 66/2311 | 313/18723 | 7.78e-06 | 1.81e-04 | 66 |
GO:00703027 | Cervix | CC | regulation of stress-activated protein kinase signaling cascade | 46/2311 | 195/18723 | 9.35e-06 | 2.11e-04 | 46 |
GO:00000824 | Cervix | CC | G1/S transition of mitotic cell cycle | 49/2311 | 214/18723 | 1.16e-05 | 2.48e-04 | 49 |
GO:19028062 | Cervix | CC | regulation of cell cycle G1/S phase transition | 41/2311 | 168/18723 | 1.18e-05 | 2.51e-04 | 41 |
GO:00073466 | Cervix | CC | regulation of mitotic cell cycle | 88/2311 | 457/18723 | 1.26e-05 | 2.60e-04 | 88 |
GO:19019903 | Cervix | CC | regulation of mitotic cell cycle phase transition | 63/2311 | 299/18723 | 1.27e-05 | 2.60e-04 | 63 |
GO:00716755 | Cervix | CC | regulation of mononuclear cell migration | 31/2311 | 115/18723 | 1.67e-05 | 3.22e-04 | 31 |
GO:00448434 | Cervix | CC | cell cycle G1/S phase transition | 53/2311 | 241/18723 | 1.76e-05 | 3.32e-04 | 53 |
GO:00459316 | Cervix | CC | positive regulation of mitotic cell cycle | 32/2311 | 121/18723 | 1.88e-05 | 3.47e-04 | 32 |
GO:00512713 | Cervix | CC | negative regulation of cellular component movement | 73/2311 | 367/18723 | 2.22e-05 | 3.95e-04 | 73 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa054173 | Colorectum | SER | Lipid and atherosclerosis | 55/1580 | 215/8465 | 6.83e-03 | 3.77e-02 | 2.74e-02 | 55 |
hsa051633 | Colorectum | SER | Human cytomegalovirus infection | 57/1580 | 225/8465 | 7.40e-03 | 3.84e-02 | 2.79e-02 | 57 |
hsa047203 | Colorectum | SER | Long-term potentiation | 21/1580 | 67/8465 | 8.52e-03 | 4.26e-02 | 3.09e-02 | 21 |
hsa049123 | Colorectum | SER | GnRH signaling pathway | 27/1580 | 93/8465 | 9.68e-03 | 4.72e-02 | 3.43e-02 | 27 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa054154 | Colorectum | MSS | Diabetic cardiomyopathy | 106/1875 | 203/8465 | 2.47e-21 | 1.62e-19 | 9.92e-20 | 106 |
hsa050164 | Colorectum | MSS | Huntington disease | 141/1875 | 306/8465 | 2.90e-21 | 1.62e-19 | 9.92e-20 | 141 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa051314 | Colorectum | MSS | Shigellosis | 94/1875 | 247/8465 | 6.82e-09 | 1.34e-07 | 8.23e-08 | 94 |
hsa050174 | Colorectum | MSS | Spinocerebellar ataxia | 60/1875 | 143/8465 | 7.14e-08 | 1.26e-06 | 7.71e-07 | 60 |
hsa047234 | Colorectum | MSS | Retrograde endocannabinoid signaling | 61/1875 | 148/8465 | 1.21e-07 | 1.93e-06 | 1.18e-06 | 61 |
hsa049194 | Colorectum | MSS | Thyroid hormone signaling pathway | 46/1875 | 121/8465 | 5.04e-05 | 4.97e-04 | 3.05e-04 | 46 |
hsa051634 | Colorectum | MSS | Human cytomegalovirus infection | 74/1875 | 225/8465 | 1.12e-04 | 1.01e-03 | 6.19e-04 | 74 |
hsa049614 | Colorectum | MSS | Endocrine and other factor-regulated calcium reabsorption | 24/1875 | 53/8465 | 1.49e-04 | 1.24e-03 | 7.61e-04 | 24 |
hsa054174 | Colorectum | MSS | Lipid and atherosclerosis | 70/1875 | 215/8465 | 2.38e-04 | 1.81e-03 | 1.11e-03 | 70 |
hsa049152 | Colorectum | MSS | Estrogen signaling pathway | 48/1875 | 138/8465 | 4.23e-04 | 3.08e-03 | 1.89e-03 | 48 |
hsa049124 | Colorectum | MSS | GnRH signaling pathway | 35/1875 | 93/8465 | 4.81e-04 | 3.43e-03 | 2.10e-03 | 35 |
hsa049224 | Colorectum | MSS | Glucagon signaling pathway | 39/1875 | 107/8465 | 5.00e-04 | 3.45e-03 | 2.11e-03 | 39 |
hsa04935 | Colorectum | MSS | Growth hormone synthesis, secretion and action | 42/1875 | 120/8465 | 8.17e-04 | 5.16e-03 | 3.16e-03 | 42 |
hsa047284 | Colorectum | MSS | Dopaminergic synapse | 45/1875 | 132/8465 | 1.02e-03 | 5.94e-03 | 3.64e-03 | 45 |
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 |
PLCB1 | SNV | Missense_Mutation | | c.2245N>A | p.Val749Ile | p.V749I | Q9NQ66 | protein_coding | deleterious(0.02) | possibly_damaging(0.609) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
PLCB1 | SNV | Missense_Mutation | | c.2548G>A | p.Glu850Lys | p.E850K | Q9NQ66 | protein_coding | tolerated(0.33) | benign(0.025) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PLCB1 | SNV | Missense_Mutation | | c.978N>A | p.Phe326Leu | p.F326L | Q9NQ66 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLCB1 | SNV | Missense_Mutation | rs867281730 | c.1229N>T | p.Ser410Leu | p.S410L | Q9NQ66 | protein_coding | deleterious(0) | possibly_damaging(0.672) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLCB1 | SNV | Missense_Mutation | | c.662N>A | p.Pro221His | p.P221H | Q9NQ66 | protein_coding | tolerated(0.06) | possibly_damaging(0.593) | TCGA-AO-A0J2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PLCB1 | SNV | Missense_Mutation | novel | c.351G>T | p.Leu117Phe | p.L117F | Q9NQ66 | protein_coding | tolerated(0.15) | benign(0.385) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLCB1 | SNV | Missense_Mutation | novel | c.352A>T | p.Asn118Tyr | p.N118Y | Q9NQ66 | protein_coding | deleterious(0) | possibly_damaging(0.852) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PLCB1 | SNV | Missense_Mutation | novel | c.976T>C | p.Phe326Leu | p.F326L | Q9NQ66 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-BH-A5J0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PLCB1 | SNV | Missense_Mutation | | c.665G>A | p.Arg222Gln | p.R222Q | Q9NQ66 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-E2-A1LK-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
PLCB1 | SNV | Missense_Mutation | rs867281730 | c.1229N>T | p.Ser410Leu | p.S410L | Q9NQ66 | protein_coding | deleterious(0) | possibly_damaging(0.672) | TCGA-E2-A9RU-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |