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:00431226 | Lung | IAC | regulation of I-kappaB kinase/NF-kappaB signaling | 51/2061 | 249/18723 | 8.41e-06 | 2.87e-04 | 51 |
GO:00002096 | Lung | IAC | protein polyubiquitination | 49/2061 | 236/18723 | 8.51e-06 | 2.89e-04 | 49 |
GO:00431235 | Lung | IAC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 38/2061 | 186/18723 | 1.19e-04 | 2.25e-03 | 38 |
GO:00434103 | Lung | IAC | positive regulation of MAPK cascade | 78/2061 | 480/18723 | 2.72e-04 | 4.50e-03 | 78 |
GO:000020912 | Lung | AIS | protein polyubiquitination | 49/1849 | 236/18723 | 3.85e-07 | 3.16e-05 | 49 |
GO:00434101 | Lung | AIS | positive regulation of MAPK cascade | 72/1849 | 480/18723 | 2.11e-04 | 4.32e-03 | 72 |
GO:004312213 | Lung | AIS | regulation of I-kappaB kinase/NF-kappaB signaling | 41/1849 | 249/18723 | 7.57e-04 | 1.08e-02 | 41 |
GO:000724913 | Lung | AIS | I-kappaB kinase/NF-kappaB signaling | 45/1849 | 281/18723 | 7.90e-04 | 1.11e-02 | 45 |
GO:000724922 | Lung | AAH | I-kappaB kinase/NF-kappaB signaling | 21/613 | 281/18723 | 4.01e-04 | 1.78e-02 | 21 |
GO:004312222 | Lung | AAH | regulation of I-kappaB kinase/NF-kappaB signaling | 19/613 | 249/18723 | 5.79e-04 | 2.23e-02 | 19 |
GO:00434102 | Lung | AAH | positive regulation of MAPK cascade | 28/613 | 480/18723 | 2.42e-03 | 4.98e-02 | 28 |
GO:000020918 | Skin | AK | protein polyubiquitination | 41/1910 | 236/18723 | 4.78e-04 | 4.44e-03 | 41 |
GO:004312224 | Skin | AK | regulation of I-kappaB kinase/NF-kappaB signaling | 42/1910 | 249/18723 | 7.65e-04 | 6.39e-03 | 42 |
GO:000724920 | Skin | AK | I-kappaB kinase/NF-kappaB signaling | 46/1910 | 281/18723 | 8.56e-04 | 7.08e-03 | 46 |
GO:004312319 | Skin | AK | positive regulation of I-kappaB kinase/NF-kappaB signaling | 31/1910 | 186/18723 | 4.21e-03 | 2.46e-02 | 31 |
GO:00434108 | Skin | AK | positive regulation of MAPK cascade | 66/1910 | 480/18723 | 7.41e-03 | 3.78e-02 | 66 |
GO:004341014 | Skin | SCCIS | positive regulation of MAPK cascade | 42/919 | 480/18723 | 2.15e-04 | 4.02e-03 | 42 |
GO:0043122111 | Skin | SCCIS | regulation of I-kappaB kinase/NF-kappaB signaling | 24/919 | 249/18723 | 1.28e-03 | 1.49e-02 | 24 |
GO:0007249110 | Skin | SCCIS | I-kappaB kinase/NF-kappaB signaling | 26/919 | 281/18723 | 1.49e-03 | 1.68e-02 | 26 |
GO:000020919 | Skin | SCCIS | protein polyubiquitination | 22/919 | 236/18723 | 3.03e-03 | 2.76e-02 | 22 |
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 |