Tissue | Expression Dynamics | Abbreviation |
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/PEX2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![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/Liver/PEX2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![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/OralCavity/PEX2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/PEX2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![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/Thyroid/PEX2_pca_on_diff_genes.png) | 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:0072594 | Colorectum | AD | establishment of protein localization to organelle | 148/3918 | 422/18723 | 7.95e-12 | 1.04e-09 | 148 |
GO:0090150 | Colorectum | AD | establishment of protein localization to membrane | 100/3918 | 260/18723 | 6.01e-11 | 6.33e-09 | 100 |
GO:0006605 | Colorectum | AD | protein targeting | 105/3918 | 314/18723 | 1.39e-07 | 6.44e-06 | 105 |
GO:0017038 | Colorectum | AD | protein import | 67/3918 | 206/18723 | 6.34e-05 | 1.05e-03 | 67 |
GO:0071806 | Colorectum | AD | protein transmembrane transport | 21/3918 | 59/18723 | 6.58e-03 | 4.08e-02 | 21 |
GO:00725941 | Colorectum | SER | establishment of protein localization to organelle | 111/2897 | 422/18723 | 4.98e-09 | 4.49e-07 | 111 |
GO:00901501 | Colorectum | SER | establishment of protein localization to membrane | 68/2897 | 260/18723 | 5.55e-06 | 2.01e-04 | 68 |
GO:00066051 | Colorectum | SER | protein targeting | 76/2897 | 314/18723 | 3.19e-05 | 8.47e-04 | 76 |
GO:00170381 | Colorectum | SER | protein import | 49/2897 | 206/18723 | 1.12e-03 | 1.29e-02 | 49 |
GO:00718061 | Colorectum | SER | protein transmembrane transport | 17/2897 | 59/18723 | 6.64e-03 | 4.69e-02 | 17 |
GO:00901504 | Colorectum | FAP | establishment of protein localization to membrane | 69/2622 | 260/18723 | 6.40e-08 | 4.54e-06 | 69 |
GO:00725944 | Colorectum | FAP | establishment of protein localization to organelle | 96/2622 | 422/18723 | 6.63e-07 | 3.20e-05 | 96 |
GO:00066054 | Colorectum | FAP | protein targeting | 74/2622 | 314/18723 | 3.21e-06 | 1.17e-04 | 74 |
GO:00170384 | Colorectum | FAP | protein import | 47/2622 | 206/18723 | 4.10e-04 | 4.94e-03 | 47 |
GO:0006612 | Colorectum | FAP | protein targeting to membrane | 30/2622 | 131/18723 | 3.95e-03 | 2.75e-02 | 30 |
GO:00650021 | Colorectum | FAP | intracellular protein transmembrane transport | 14/2622 | 51/18723 | 8.70e-03 | 4.98e-02 | 14 |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
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 |
PEX2 | SNV | Missense_Mutation | rs199845625 | c.374N>A | p.Arg125Gln | p.R125Q | P28328 | protein_coding | tolerated(0.52) | benign(0.167) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PEX2 | SNV | Missense_Mutation | novel | c.259N>C | p.Asn87His | p.N87H | P28328 | protein_coding | deleterious(0.01) | possibly_damaging(0.492) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PEX2 | SNV | Missense_Mutation | novel | c.454N>T | p.Ile152Phe | p.I152F | P28328 | protein_coding | tolerated(0.07) | benign(0.185) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PEX2 | SNV | Missense_Mutation | novel | c.798N>A | p.Phe266Leu | p.F266L | P28328 | protein_coding | deleterious(0.01) | benign(0.024) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
PEX2 | SNV | Missense_Mutation | novel | c.657G>C | p.Lys219Asn | p.K219N | P28328 | protein_coding | tolerated(0.4) | benign(0.223) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
PEX2 | SNV | Missense_Mutation | rs199845625 | c.374G>A | p.Arg125Gln | p.R125Q | P28328 | protein_coding | tolerated(0.52) | benign(0.167) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
PEX2 | SNV | Missense_Mutation | novel | c.551N>A | p.Cys184Tyr | p.C184Y | P28328 | protein_coding | deleterious(0) | benign(0) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PEX2 | SNV | Missense_Mutation | novel | c.178T>A | p.Leu60Ile | p.L60I | P28328 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
PEX2 | SNV | Missense_Mutation | rs148428490 | c.23C>T | p.Ala8Val | p.A8V | P28328 | protein_coding | tolerated(0.27) | benign(0.01) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
PEX2 | SNV | Missense_Mutation | novel | c.759N>A | p.Met253Ile | p.M253I | P28328 | protein_coding | tolerated(0.08) | possibly_damaging(0.542) | TCGA-PG-A6IB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |