Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Cervix/PELI2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/PELI2_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/PELI2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/PELI2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/PELI2_pca_on_diff_genes.png) | 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:00002097 | Cervix | CC | protein polyubiquitination | 58/2311 | 236/18723 | 1.57e-07 | 7.41e-06 | 58 |
GO:00434104 | Cervix | CC | positive regulation of MAPK cascade | 90/2311 | 480/18723 | 2.92e-05 | 4.83e-04 | 90 |
GO:00431228 | Cervix | CC | regulation of I-kappaB kinase/NF-kappaB signaling | 53/2311 | 249/18723 | 4.50e-05 | 6.87e-04 | 53 |
GO:00072497 | Cervix | CC | I-kappaB kinase/NF-kappaB signaling | 56/2311 | 281/18723 | 1.81e-04 | 2.12e-03 | 56 |
GO:00431237 | Cervix | CC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 37/2311 | 186/18723 | 2.15e-03 | 1.55e-02 | 37 |
GO:00431229 | Endometrium | AEH | regulation of I-kappaB kinase/NF-kappaB signaling | 52/2100 | 249/18723 | 6.58e-06 | 1.59e-04 | 52 |
GO:00431238 | Endometrium | AEH | positive regulation of I-kappaB kinase/NF-kappaB signaling | 41/2100 | 186/18723 | 1.59e-05 | 3.32e-04 | 41 |
GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
GO:00072498 | Endometrium | AEH | I-kappaB kinase/NF-kappaB signaling | 55/2100 | 281/18723 | 2.60e-05 | 4.88e-04 | 55 |
GO:00002098 | Endometrium | AEH | protein polyubiquitination | 44/2100 | 236/18723 | 4.83e-04 | 4.97e-03 | 44 |
GO:004341011 | Endometrium | EEC | positive regulation of MAPK cascade | 89/2168 | 480/18723 | 4.21e-06 | 1.08e-04 | 89 |
GO:004312216 | Endometrium | EEC | regulation of I-kappaB kinase/NF-kappaB signaling | 53/2168 | 249/18723 | 7.59e-06 | 1.73e-04 | 53 |
GO:004312314 | Endometrium | EEC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 42/2168 | 186/18723 | 1.47e-05 | 2.87e-04 | 42 |
GO:000724915 | Endometrium | EEC | I-kappaB kinase/NF-kappaB signaling | 57/2168 | 281/18723 | 1.60e-05 | 3.12e-04 | 57 |
GO:000020913 | Endometrium | EEC | protein polyubiquitination | 46/2168 | 236/18723 | 2.65e-04 | 3.04e-03 | 46 |
GO:000020917 | Esophagus | ESCC | protein polyubiquitination | 170/8552 | 236/18723 | 1.40e-16 | 1.09e-14 | 170 |
GO:004312318 | Esophagus | ESCC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 132/8552 | 186/18723 | 2.07e-12 | 8.58e-11 | 132 |
GO:0043122110 | Esophagus | ESCC | regulation of I-kappaB kinase/NF-kappaB signaling | 167/8552 | 249/18723 | 6.11e-12 | 2.32e-10 | 167 |
GO:000724919 | Esophagus | ESCC | I-kappaB kinase/NF-kappaB signaling | 183/8552 | 281/18723 | 3.02e-11 | 1.01e-09 | 183 |
GO:00072495 | Lung | IAC | I-kappaB kinase/NF-kappaB signaling | 56/2061 | 281/18723 | 7.39e-06 | 2.62e-04 | 56 |
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 |
PELI2 | SNV | Missense_Mutation | rs749388627 | c.686N>A | p.Arg229Gln | p.R229Q | Q9HAT8 | protein_coding | deleterious(0.05) | possibly_damaging(0.582) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
PELI2 | SNV | Missense_Mutation | novel | c.416T>A | p.Phe139Tyr | p.F139Y | Q9HAT8 | protein_coding | tolerated(0.39) | benign(0.019) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PELI2 | SNV | Missense_Mutation | rs200311934 | c.974G>A | p.Arg325Gln | p.R325Q | Q9HAT8 | protein_coding | tolerated(0.24) | possibly_damaging(0.598) | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
PELI2 | SNV | Missense_Mutation | | c.801N>C | p.Gln267His | p.Q267H | Q9HAT8 | protein_coding | tolerated(0.51) | possibly_damaging(0.77) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PELI2 | SNV | Missense_Mutation | | c.841C>T | p.Arg281Trp | p.R281W | Q9HAT8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AR-A24S-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
PELI2 | SNV | Missense_Mutation | rs557894615 | c.601N>A | p.Glu201Lys | p.E201K | Q9HAT8 | protein_coding | tolerated(0.44) | benign(0.146) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PELI2 | insertion | Frame_Shift_Ins | novel | c.978_979insATCTTCAAATATTTTTTTGCTTGTTCTGAGAGGAAAGAATCTTGGA | p.Asp327IlefsTer41 | p.D327Ifs*41 | Q9HAT8 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
PELI2 | SNV | Missense_Mutation | novel | c.1187C>G | p.Ala396Gly | p.A396G | Q9HAT8 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PELI2 | SNV | Missense_Mutation | | c.275N>G | p.Glu92Gly | p.E92G | Q9HAT8 | protein_coding | deleterious(0.02) | probably_damaging(0.922) | TCGA-EA-A3HQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PELI2 | SNV | Missense_Mutation | rs375391259 | c.616N>A | p.Gly206Arg | p.G206R | Q9HAT8 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-JW-A852-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |