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 |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:200123310 | Cervix | CC | regulation of apoptotic signaling pathway | 96/2311 | 356/18723 | 4.08e-14 | 3.05e-11 | 96 |
GO:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
GO:200123410 | Cervix | CC | negative regulation of apoptotic signaling pathway | 56/2311 | 224/18723 | 1.39e-07 | 6.70e-06 | 56 |
GO:009719110 | Cervix | CC | extrinsic apoptotic signaling pathway | 52/2311 | 219/18723 | 2.06e-06 | 6.34e-05 | 52 |
GO:00457876 | Cervix | CC | positive regulation of cell cycle | 66/2311 | 313/18723 | 7.78e-06 | 1.81e-04 | 66 |
GO:00073466 | Cervix | CC | regulation of mitotic cell cycle | 88/2311 | 457/18723 | 1.26e-05 | 2.60e-04 | 88 |
GO:00083608 | Cervix | CC | regulation of cell shape | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:19016538 | Cervix | CC | cellular response to peptide | 72/2311 | 359/18723 | 1.89e-05 | 3.48e-04 | 72 |
GO:200123610 | Cervix | CC | regulation of extrinsic apoptotic signaling pathway | 37/2311 | 151/18723 | 2.80e-05 | 4.65e-04 | 37 |
GO:00900685 | Cervix | CC | positive regulation of cell cycle process | 50/2311 | 236/18723 | 8.25e-05 | 1.11e-03 | 50 |
GO:00434349 | Cervix | CC | response to peptide hormone | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
GO:00713757 | Cervix | CC | cellular response to peptide hormone stimulus | 57/2311 | 290/18723 | 2.32e-04 | 2.59e-03 | 57 |
GO:00328698 | Cervix | CC | cellular response to insulin stimulus | 42/2311 | 203/18723 | 4.95e-04 | 4.83e-03 | 42 |
GO:00328688 | Cervix | CC | response to insulin | 50/2311 | 264/18723 | 1.28e-03 | 1.02e-02 | 50 |
GO:200123710 | Cervix | CC | negative regulation of extrinsic apoptotic signaling pathway | 23/2311 | 97/18723 | 1.39e-03 | 1.10e-02 | 23 |
GO:00082865 | Cervix | CC | insulin receptor signaling pathway | 25/2311 | 116/18723 | 3.59e-03 | 2.30e-02 | 25 |
GO:01400143 | Cervix | CC | mitotic nuclear division | 50/2311 | 287/18723 | 7.27e-03 | 3.91e-02 | 50 |
GO:00482851 | Cervix | CC | organelle fission | 78/2311 | 488/18723 | 9.70e-03 | 4.79e-02 | 78 |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:2001233 | Colorectum | AD | regulation of apoptotic signaling pathway | 119/3918 | 356/18723 | 2.14e-08 | 1.21e-06 | 119 |
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 |
PHIP | SNV | Missense_Mutation | novel | c.3044N>C | p.Leu1015Ser | p.L1015S | Q8WWQ0 | protein_coding | deleterious(0.05) | possibly_damaging(0.781) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PHIP | SNV | Missense_Mutation | | c.4901N>G | p.Leu1634Arg | p.L1634R | Q8WWQ0 | protein_coding | deleterious_low_confidence(0.04) | possibly_damaging(0.451) | TCGA-D1-A177-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PHIP | SNV | Missense_Mutation | | c.3754N>A | p.Val1252Met | p.V1252M | Q8WWQ0 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D1-A17D-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
PHIP | SNV | Missense_Mutation | | c.1187N>A | p.Arg396Gln | p.R396Q | Q8WWQ0 | protein_coding | tolerated(1) | benign(0.007) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.917N>C | p.Lys306Thr | p.K306T | Q8WWQ0 | protein_coding | tolerated(0.12) | probably_damaging(0.987) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.3516N>G | p.Ile1172Met | p.I1172M | Q8WWQ0 | protein_coding | deleterious(0.04) | possibly_damaging(0.865) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.2769N>T | p.Lys923Asn | p.K923N | Q8WWQ0 | protein_coding | tolerated(0.15) | benign(0.227) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.3001N>A | p.Gln1001Lys | p.Q1001K | Q8WWQ0 | protein_coding | deleterious(0.02) | benign(0.237) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.1088N>G | p.Phe363Cys | p.F363C | Q8WWQ0 | protein_coding | deleterious(0.04) | possibly_damaging(0.796) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHIP | SNV | Missense_Mutation | novel | c.4505N>A | p.Ser1502Tyr | p.S1502Y | Q8WWQ0 | protein_coding | deleterious_low_confidence(0.02) | benign(0.259) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |