Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:001095025 | Skin | AK | positive regulation of endopeptidase activity | 34/1910 | 179/18723 | 2.66e-04 | 2.86e-03 | 34 |
GO:0097193112 | Skin | SCCIS | intrinsic apoptotic signaling pathway | 42/919 | 288/18723 | 2.40e-10 | 2.12e-07 | 42 |
GO:0045862112 | Skin | SCCIS | positive regulation of proteolysis | 43/919 | 372/18723 | 1.69e-07 | 1.91e-05 | 43 |
GO:0052547112 | Skin | SCCIS | regulation of peptidase activity | 46/919 | 461/18723 | 4.09e-06 | 1.82e-04 | 46 |
GO:0045216110 | Skin | SCCIS | cell-cell junction organization | 26/919 | 200/18723 | 5.65e-06 | 2.29e-04 | 26 |
GO:0052548112 | Skin | SCCIS | regulation of endopeptidase activity | 43/919 | 432/18723 | 8.92e-06 | 3.22e-04 | 43 |
GO:0072331112 | Skin | SCCIS | signal transduction by p53 class mediator | 22/919 | 163/18723 | 1.60e-05 | 4.98e-04 | 22 |
GO:0010952112 | Skin | SCCIS | positive regulation of peptidase activity | 21/919 | 197/18723 | 7.07e-04 | 1.01e-02 | 21 |
GO:0072332112 | Skin | SCCIS | intrinsic apoptotic signaling pathway by p53 class mediator | 11/919 | 76/18723 | 1.16e-03 | 1.38e-02 | 11 |
GO:2000116112 | Skin | SCCIS | regulation of cysteine-type endopeptidase activity | 23/919 | 235/18723 | 1.31e-03 | 1.52e-02 | 23 |
GO:000721914 | Skin | SCCIS | Notch signaling pathway | 17/919 | 172/18723 | 4.79e-03 | 3.95e-02 | 17 |
GO:009719329 | Skin | cSCC | intrinsic apoptotic signaling pathway | 150/4864 | 288/18723 | 1.76e-21 | 3.34e-19 | 150 |
GO:004586229 | Skin | cSCC | positive regulation of proteolysis | 169/4864 | 372/18723 | 2.43e-16 | 2.21e-14 | 169 |
GO:007233129 | Skin | cSCC | signal transduction by p53 class mediator | 83/4864 | 163/18723 | 7.71e-12 | 4.00e-10 | 83 |
GO:005254728 | Skin | cSCC | regulation of peptidase activity | 177/4864 | 461/18723 | 2.21e-09 | 8.02e-08 | 177 |
GO:005254828 | Skin | cSCC | regulation of endopeptidase activity | 165/4864 | 432/18723 | 1.18e-08 | 3.63e-07 | 165 |
GO:007233228 | Skin | cSCC | intrinsic apoptotic signaling pathway by p53 class mediator | 43/4864 | 76/18723 | 1.48e-08 | 4.49e-07 | 43 |
GO:001095227 | Skin | cSCC | positive regulation of peptidase activity | 85/4864 | 197/18723 | 1.14e-07 | 2.69e-06 | 85 |
GO:005160419 | Skin | cSCC | protein maturation | 117/4864 | 294/18723 | 1.27e-07 | 2.93e-06 | 117 |
GO:200011628 | Skin | cSCC | regulation of cysteine-type endopeptidase activity | 97/4864 | 235/18723 | 2.01e-07 | 4.34e-06 | 97 |
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 |
PERP | SNV | Missense_Mutation | | c.460N>A | p.Gly154Ser | p.G154S | Q96FX8 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-BH-A0DQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PERP | SNV | Missense_Mutation | | c.295N>G | p.Leu99Val | p.L99V | Q96FX8 | protein_coding | tolerated(0.07) | probably_damaging(0.936) | TCGA-C8-A12T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PERP | SNV | Missense_Mutation | | c.184G>A | p.Glu62Lys | p.E62K | Q96FX8 | protein_coding | tolerated(0.47) | benign(0.018) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
PERP | SNV | Missense_Mutation | | c.295N>A | p.Leu99Ile | p.L99I | Q96FX8 | protein_coding | tolerated(0.22) | probably_damaging(0.914) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PERP | SNV | Missense_Mutation | novel | c.56T>C | p.Leu19Pro | p.L19P | Q96FX8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
PERP | SNV | Missense_Mutation | novel | c.197N>G | p.Gln66Arg | p.Q66R | Q96FX8 | protein_coding | tolerated(0.59) | benign(0) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PERP | SNV | Missense_Mutation | | c.512G>A | p.Cys171Tyr | p.C171Y | Q96FX8 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PERP | SNV | Missense_Mutation | novel | c.571A>G | p.Thr191Ala | p.T191A | Q96FX8 | protein_coding | deleterious(0.01) | benign(0) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PERP | SNV | Missense_Mutation | novel | c.122N>G | p.His41Arg | p.H41R | Q96FX8 | protein_coding | tolerated(0.28) | benign(0) | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PERP | SNV | Missense_Mutation | novel | c.100G>T | p.Gly34Cys | p.G34C | Q96FX8 | protein_coding | deleterious(0) | possibly_damaging(0.829) | TCGA-NJ-A4YQ-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |